rs8053 - SNP

Search results

Items: 11

Select item 80531.

rs8053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:78548878 (GRCh38)
15:78841220 (GRCh37)
Canonical SPDI:: NC_000015.10:78548877:T:A,NC_000015.10:78548877:T:C
Gene:: PSMA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.397549/110932 (ALFA)
T=0.087161/1461 (TOMMO)
T=0.112628/330 (KOREAN)
T=0.125546/230 (Korea1K)
T=0.178431/91 (SGDP_PRJ)
T=0.189394/150 (PRJEB37584)
T=0.203704/11 (Siberian)
T=0.226216/428 (HapMap)
T=0.234564/18456 (PAGE_STUDY)
T=0.244691/1225 (1000Genomes)
T=0.25/54 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.321043/84977 (TOPMED)
T=0.332237/101 (FINRISK)
T=0.334494/83643 (GnomAD_exomes)
T=0.336673/47139 (GnomAD)
T=0.338588/41049 (ExAC)
T=0.340824/182 (MGP)
T=0.357836/4644 (GoESP)
C=0.407407/22 (PRJEB36033)
T=0.417187/1869 (Estonian)
T=0.41984/419 (GoNL)
T=0.439024/1692 (ALSPAC)
T=0.446063/1654 (TWINSUK)
T=0.45/270 (NorthernSweden)
HGVS:: NC_000015.10:g.78548878T>A, NC_000015.10:g.78548878T>C, NC_000015.9:g.78841220T>A, NC_000015.9:g.78841220T>C, NM_002789.6:c.720T>A, NM_002789.6:c.720T>C, NM_002789.5:c.720T>A, NM_002789.5:c.720T>C, NM_002789.4:c.720T>A, NM_002789.4:c.720T>C, NM_001102668.3:c.507T>A, NM_001102668.3:c.507T>C, NM_001102668.2:c.507T>A, NM_001102668.2:c.507T>C, NM_001102668.1:c.507T>A, NM_001102668.1:c.507T>C, NM_001330676.2:c.720T>A, NM_001330676.2:c.720T>C, NM_001330676.1:c.720T>A, NM_001330676.1:c.720T>C, NM_001330675.2:c.627T>A, NM_001330675.2:c.627T>C, NM_001330675.1:c.627T>A, NM_001330675.1:c.627T>C, NM_001330673.2:c.*71T>A, NM_001330673.2:c.*71T>C, NM_001330673.1:c.*71T>A, NM_001330673.1:c.*71T>C, NM_001102667.2:c.720T>A, NM_001102667.2:c.720T>C, NM_001102667.1:c.720T>A, NM_001102667.1:c.720T>C, NP_002780.1:p.His240Gln, NP_001096138.1:p.His169Gln, NP_001317605.1:p.His240Gln, NP_001317604.1:p.His209Gln, NP_001096137.1:p.His240Gln

PubMed LitVar

Select item 595717082.

rs59571708 has merged into rs8053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:78548878 (GRCh38)
15:78841220 (GRCh37)
Canonical SPDI:: NC_000015.10:78548877:T:A,NC_000015.10:78548877:T:C
Gene:: PSMA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.397549/110932 (ALFA)
T=0.087161/1461 (TOMMO)
T=0.112628/330 (KOREAN)
T=0.125546/230 (Korea1K)
T=0.178431/91 (SGDP_PRJ)
T=0.189394/150 (PRJEB37584)
T=0.203704/11 (Siberian)
T=0.226216/428 (HapMap)
T=0.234564/18456 (PAGE_STUDY)
T=0.244691/1225 (1000Genomes)
T=0.25/54 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.321043/84977 (TOPMED)
T=0.332237/101 (FINRISK)
T=0.334494/83643 (GnomAD_exomes)
T=0.336673/47139 (GnomAD)
T=0.338588/41049 (ExAC)
T=0.340824/182 (MGP)
T=0.357836/4644 (GoESP)
C=0.407407/22 (PRJEB36033)
T=0.417187/1869 (Estonian)
T=0.41984/419 (GoNL)
T=0.439024/1692 (ALSPAC)
T=0.446063/1654 (TWINSUK)
T=0.45/270 (NorthernSweden)
HGVS:: NC_000015.10:g.78548878T>A, NC_000015.10:g.78548878T>C, NC_000015.9:g.78841220T>A, NC_000015.9:g.78841220T>C, NM_002789.6:c.720T>A, NM_002789.6:c.720T>C, NM_002789.5:c.720T>A, NM_002789.5:c.720T>C, NM_002789.4:c.720T>A, NM_002789.4:c.720T>C, NM_001102668.3:c.507T>A, NM_001102668.3:c.507T>C, NM_001102668.2:c.507T>A, NM_001102668.2:c.507T>C, NM_001102668.1:c.507T>A, NM_001102668.1:c.507T>C, NM_001330676.2:c.720T>A, NM_001330676.2:c.720T>C, NM_001330676.1:c.720T>A, NM_001330676.1:c.720T>C, NM_001330675.2:c.627T>A, NM_001330675.2:c.627T>C, NM_001330675.1:c.627T>A, NM_001330675.1:c.627T>C, NM_001330673.2:c.*71T>A, NM_001330673.2:c.*71T>C, NM_001330673.1:c.*71T>A, NM_001330673.1:c.*71T>C, NM_001102667.2:c.720T>A, NM_001102667.2:c.720T>C, NM_001102667.1:c.720T>A, NM_001102667.1:c.720T>C, NP_002780.1:p.His240Gln, NP_001096138.1:p.His169Gln, NP_001317605.1:p.His240Gln, NP_001317604.1:p.His209Gln, NP_001096137.1:p.His240Gln

Select item 178545093.

rs17854509 has merged into rs8053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:78548878 (GRCh38)
15:78841220 (GRCh37)
Canonical SPDI:: NC_000015.10:78548877:T:A,NC_000015.10:78548877:T:C
Gene:: PSMA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.397549/110932 (ALFA)
T=0.087161/1461 (TOMMO)
T=0.112628/330 (KOREAN)
T=0.125546/230 (Korea1K)
T=0.178431/91 (SGDP_PRJ)
T=0.189394/150 (PRJEB37584)
T=0.203704/11 (Siberian)
T=0.226216/428 (HapMap)
T=0.234564/18456 (PAGE_STUDY)
T=0.244691/1225 (1000Genomes)
T=0.25/54 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.321043/84977 (TOPMED)
T=0.332237/101 (FINRISK)
T=0.334494/83643 (GnomAD_exomes)
T=0.336673/47139 (GnomAD)
T=0.338588/41049 (ExAC)
T=0.340824/182 (MGP)
T=0.357836/4644 (GoESP)
C=0.407407/22 (PRJEB36033)
T=0.417187/1869 (Estonian)
T=0.41984/419 (GoNL)
T=0.439024/1692 (ALSPAC)
T=0.446063/1654 (TWINSUK)
T=0.45/270 (NorthernSweden)
HGVS:: NC_000015.10:g.78548878T>A, NC_000015.10:g.78548878T>C, NC_000015.9:g.78841220T>A, NC_000015.9:g.78841220T>C, NM_002789.6:c.720T>A, NM_002789.6:c.720T>C, NM_002789.5:c.720T>A, NM_002789.5:c.720T>C, NM_002789.4:c.720T>A, NM_002789.4:c.720T>C, NM_001102668.3:c.507T>A, NM_001102668.3:c.507T>C, NM_001102668.2:c.507T>A, NM_001102668.2:c.507T>C, NM_001102668.1:c.507T>A, NM_001102668.1:c.507T>C, NM_001330676.2:c.720T>A, NM_001330676.2:c.720T>C, NM_001330676.1:c.720T>A, NM_001330676.1:c.720T>C, NM_001330675.2:c.627T>A, NM_001330675.2:c.627T>C, NM_001330675.1:c.627T>A, NM_001330675.1:c.627T>C, NM_001330673.2:c.*71T>A, NM_001330673.2:c.*71T>C, NM_001330673.1:c.*71T>A, NM_001330673.1:c.*71T>C, NM_001102667.2:c.720T>A, NM_001102667.2:c.720T>C, NM_001102667.1:c.720T>A, NM_001102667.1:c.720T>C, NP_002780.1:p.His240Gln, NP_001096138.1:p.His169Gln, NP_001317605.1:p.His240Gln, NP_001317604.1:p.His209Gln, NP_001096137.1:p.His240Gln

Select item 178520114.

rs17852011 has merged into rs8053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:78548878 (GRCh38)
15:78841220 (GRCh37)
Canonical SPDI:: NC_000015.10:78548877:T:A,NC_000015.10:78548877:T:C
Gene:: PSMA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.397549/110932 (ALFA)
T=0.087161/1461 (TOMMO)
T=0.112628/330 (KOREAN)
T=0.125546/230 (Korea1K)
T=0.178431/91 (SGDP_PRJ)
T=0.189394/150 (PRJEB37584)
T=0.203704/11 (Siberian)
T=0.226216/428 (HapMap)
T=0.234564/18456 (PAGE_STUDY)
T=0.244691/1225 (1000Genomes)
T=0.25/54 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.321043/84977 (TOPMED)
T=0.332237/101 (FINRISK)
T=0.334494/83643 (GnomAD_exomes)
T=0.336673/47139 (GnomAD)
T=0.338588/41049 (ExAC)
T=0.340824/182 (MGP)
T=0.357836/4644 (GoESP)
C=0.407407/22 (PRJEB36033)
T=0.417187/1869 (Estonian)
T=0.41984/419 (GoNL)
T=0.439024/1692 (ALSPAC)
T=0.446063/1654 (TWINSUK)
T=0.45/270 (NorthernSweden)
HGVS:: NC_000015.10:g.78548878T>A, NC_000015.10:g.78548878T>C, NC_000015.9:g.78841220T>A, NC_000015.9:g.78841220T>C, NM_002789.6:c.720T>A, NM_002789.6:c.720T>C, NM_002789.5:c.720T>A, NM_002789.5:c.720T>C, NM_002789.4:c.720T>A, NM_002789.4:c.720T>C, NM_001102668.3:c.507T>A, NM_001102668.3:c.507T>C, NM_001102668.2:c.507T>A, NM_001102668.2:c.507T>C, NM_001102668.1:c.507T>A, NM_001102668.1:c.507T>C, NM_001330676.2:c.720T>A, NM_001330676.2:c.720T>C, NM_001330676.1:c.720T>A, NM_001330676.1:c.720T>C, NM_001330675.2:c.627T>A, NM_001330675.2:c.627T>C, NM_001330675.1:c.627T>A, NM_001330675.1:c.627T>C, NM_001330673.2:c.*71T>A, NM_001330673.2:c.*71T>C, NM_001330673.1:c.*71T>A, NM_001330673.1:c.*71T>C, NM_001102667.2:c.720T>A, NM_001102667.2:c.720T>C, NM_001102667.1:c.720T>A, NM_001102667.1:c.720T>C, NP_002780.1:p.His240Gln, NP_001096138.1:p.His169Gln, NP_001317605.1:p.His240Gln, NP_001317604.1:p.His209Gln, NP_001096137.1:p.His240Gln

Select item 178499825.

rs17849982 has merged into rs8053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:78548878 (GRCh38)
15:78841220 (GRCh37)
Canonical SPDI:: NC_000015.10:78548877:T:A,NC_000015.10:78548877:T:C
Gene:: PSMA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.397549/110932 (ALFA)
T=0.087161/1461 (TOMMO)
T=0.112628/330 (KOREAN)
T=0.125546/230 (Korea1K)
T=0.178431/91 (SGDP_PRJ)
T=0.189394/150 (PRJEB37584)
T=0.203704/11 (Siberian)
T=0.226216/428 (HapMap)
T=0.234564/18456 (PAGE_STUDY)
T=0.244691/1225 (1000Genomes)
T=0.25/54 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.321043/84977 (TOPMED)
T=0.332237/101 (FINRISK)
T=0.334494/83643 (GnomAD_exomes)
T=0.336673/47139 (GnomAD)
T=0.338588/41049 (ExAC)
T=0.340824/182 (MGP)
T=0.357836/4644 (GoESP)
C=0.407407/22 (PRJEB36033)
T=0.417187/1869 (Estonian)
T=0.41984/419 (GoNL)
T=0.439024/1692 (ALSPAC)
T=0.446063/1654 (TWINSUK)
T=0.45/270 (NorthernSweden)
HGVS:: NC_000015.10:g.78548878T>A, NC_000015.10:g.78548878T>C, NC_000015.9:g.78841220T>A, NC_000015.9:g.78841220T>C, NM_002789.6:c.720T>A, NM_002789.6:c.720T>C, NM_002789.5:c.720T>A, NM_002789.5:c.720T>C, NM_002789.4:c.720T>A, NM_002789.4:c.720T>C, NM_001102668.3:c.507T>A, NM_001102668.3:c.507T>C, NM_001102668.2:c.507T>A, NM_001102668.2:c.507T>C, NM_001102668.1:c.507T>A, NM_001102668.1:c.507T>C, NM_001330676.2:c.720T>A, NM_001330676.2:c.720T>C, NM_001330676.1:c.720T>A, NM_001330676.1:c.720T>C, NM_001330675.2:c.627T>A, NM_001330675.2:c.627T>C, NM_001330675.1:c.627T>A, NM_001330675.1:c.627T>C, NM_001330673.2:c.*71T>A, NM_001330673.2:c.*71T>C, NM_001330673.1:c.*71T>A, NM_001330673.1:c.*71T>C, NM_001102667.2:c.720T>A, NM_001102667.2:c.720T>C, NM_001102667.1:c.720T>A, NM_001102667.1:c.720T>C, NP_002780.1:p.His240Gln, NP_001096138.1:p.His169Gln, NP_001317605.1:p.His240Gln, NP_001317604.1:p.His209Gln, NP_001096137.1:p.His240Gln

Select item 174858036.

rs17485803 has merged into rs8053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:78548878 (GRCh38)
15:78841220 (GRCh37)
Canonical SPDI:: NC_000015.10:78548877:T:A,NC_000015.10:78548877:T:C
Gene:: PSMA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.397549/110932 (ALFA)
T=0.087161/1461 (TOMMO)
T=0.112628/330 (KOREAN)
T=0.125546/230 (Korea1K)
T=0.178431/91 (SGDP_PRJ)
T=0.189394/150 (PRJEB37584)
T=0.203704/11 (Siberian)
T=0.226216/428 (HapMap)
T=0.234564/18456 (PAGE_STUDY)
T=0.244691/1225 (1000Genomes)
T=0.25/54 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.321043/84977 (TOPMED)
T=0.332237/101 (FINRISK)
T=0.334494/83643 (GnomAD_exomes)
T=0.336673/47139 (GnomAD)
T=0.338588/41049 (ExAC)
T=0.340824/182 (MGP)
T=0.357836/4644 (GoESP)
C=0.407407/22 (PRJEB36033)
T=0.417187/1869 (Estonian)
T=0.41984/419 (GoNL)
T=0.439024/1692 (ALSPAC)
T=0.446063/1654 (TWINSUK)
T=0.45/270 (NorthernSweden)
HGVS:: NC_000015.10:g.78548878T>A, NC_000015.10:g.78548878T>C, NC_000015.9:g.78841220T>A, NC_000015.9:g.78841220T>C, NM_002789.6:c.720T>A, NM_002789.6:c.720T>C, NM_002789.5:c.720T>A, NM_002789.5:c.720T>C, NM_002789.4:c.720T>A, NM_002789.4:c.720T>C, NM_001102668.3:c.507T>A, NM_001102668.3:c.507T>C, NM_001102668.2:c.507T>A, NM_001102668.2:c.507T>C, NM_001102668.1:c.507T>A, NM_001102668.1:c.507T>C, NM_001330676.2:c.720T>A, NM_001330676.2:c.720T>C, NM_001330676.1:c.720T>A, NM_001330676.1:c.720T>C, NM_001330675.2:c.627T>A, NM_001330675.2:c.627T>C, NM_001330675.1:c.627T>A, NM_001330675.1:c.627T>C, NM_001330673.2:c.*71T>A, NM_001330673.2:c.*71T>C, NM_001330673.1:c.*71T>A, NM_001330673.1:c.*71T>C, NM_001102667.2:c.720T>A, NM_001102667.2:c.720T>C, NM_001102667.1:c.720T>A, NM_001102667.1:c.720T>C, NP_002780.1:p.His240Gln, NP_001096138.1:p.His169Gln, NP_001317605.1:p.His240Gln, NP_001317604.1:p.His209Gln, NP_001096137.1:p.His240Gln

Select item 173495087.

rs17349508 has merged into rs8053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:78548878 (GRCh38)
15:78841220 (GRCh37)
Canonical SPDI:: NC_000015.10:78548877:T:A,NC_000015.10:78548877:T:C
Gene:: PSMA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.397549/110932 (ALFA)
T=0.087161/1461 (TOMMO)
T=0.112628/330 (KOREAN)
T=0.125546/230 (Korea1K)
T=0.178431/91 (SGDP_PRJ)
T=0.189394/150 (PRJEB37584)
T=0.203704/11 (Siberian)
T=0.226216/428 (HapMap)
T=0.234564/18456 (PAGE_STUDY)
T=0.244691/1225 (1000Genomes)
T=0.25/54 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.321043/84977 (TOPMED)
T=0.332237/101 (FINRISK)
T=0.334494/83643 (GnomAD_exomes)
T=0.336673/47139 (GnomAD)
T=0.338588/41049 (ExAC)
T=0.340824/182 (MGP)
T=0.357836/4644 (GoESP)
C=0.407407/22 (PRJEB36033)
T=0.417187/1869 (Estonian)
T=0.41984/419 (GoNL)
T=0.439024/1692 (ALSPAC)
T=0.446063/1654 (TWINSUK)
T=0.45/270 (NorthernSweden)
HGVS:: NC_000015.10:g.78548878T>A, NC_000015.10:g.78548878T>C, NC_000015.9:g.78841220T>A, NC_000015.9:g.78841220T>C, NM_002789.6:c.720T>A, NM_002789.6:c.720T>C, NM_002789.5:c.720T>A, NM_002789.5:c.720T>C, NM_002789.4:c.720T>A, NM_002789.4:c.720T>C, NM_001102668.3:c.507T>A, NM_001102668.3:c.507T>C, NM_001102668.2:c.507T>A, NM_001102668.2:c.507T>C, NM_001102668.1:c.507T>A, NM_001102668.1:c.507T>C, NM_001330676.2:c.720T>A, NM_001330676.2:c.720T>C, NM_001330676.1:c.720T>A, NM_001330676.1:c.720T>C, NM_001330675.2:c.627T>A, NM_001330675.2:c.627T>C, NM_001330675.1:c.627T>A, NM_001330675.1:c.627T>C, NM_001330673.2:c.*71T>A, NM_001330673.2:c.*71T>C, NM_001330673.1:c.*71T>A, NM_001330673.1:c.*71T>C, NM_001102667.2:c.720T>A, NM_001102667.2:c.720T>C, NM_001102667.1:c.720T>A, NM_001102667.1:c.720T>C, NP_002780.1:p.His240Gln, NP_001096138.1:p.His169Gln, NP_001317605.1:p.His240Gln, NP_001317604.1:p.His209Gln, NP_001096137.1:p.His240Gln

Select item 31924128.

rs3192412 has merged into rs8053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:78548878 (GRCh38)
15:78841220 (GRCh37)
Canonical SPDI:: NC_000015.10:78548877:T:A,NC_000015.10:78548877:T:C
Gene:: PSMA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.397549/110932 (ALFA)
T=0.087161/1461 (TOMMO)
T=0.112628/330 (KOREAN)
T=0.125546/230 (Korea1K)
T=0.178431/91 (SGDP_PRJ)
T=0.189394/150 (PRJEB37584)
T=0.203704/11 (Siberian)
T=0.226216/428 (HapMap)
T=0.234564/18456 (PAGE_STUDY)
T=0.244691/1225 (1000Genomes)
T=0.25/54 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.321043/84977 (TOPMED)
T=0.332237/101 (FINRISK)
T=0.334494/83643 (GnomAD_exomes)
T=0.336673/47139 (GnomAD)
T=0.338588/41049 (ExAC)
T=0.340824/182 (MGP)
T=0.357836/4644 (GoESP)
C=0.407407/22 (PRJEB36033)
T=0.417187/1869 (Estonian)
T=0.41984/419 (GoNL)
T=0.439024/1692 (ALSPAC)
T=0.446063/1654 (TWINSUK)
T=0.45/270 (NorthernSweden)
HGVS:: NC_000015.10:g.78548878T>A, NC_000015.10:g.78548878T>C, NC_000015.9:g.78841220T>A, NC_000015.9:g.78841220T>C, NM_002789.6:c.720T>A, NM_002789.6:c.720T>C, NM_002789.5:c.720T>A, NM_002789.5:c.720T>C, NM_002789.4:c.720T>A, NM_002789.4:c.720T>C, NM_001102668.3:c.507T>A, NM_001102668.3:c.507T>C, NM_001102668.2:c.507T>A, NM_001102668.2:c.507T>C, NM_001102668.1:c.507T>A, NM_001102668.1:c.507T>C, NM_001330676.2:c.720T>A, NM_001330676.2:c.720T>C, NM_001330676.1:c.720T>A, NM_001330676.1:c.720T>C, NM_001330675.2:c.627T>A, NM_001330675.2:c.627T>C, NM_001330675.1:c.627T>A, NM_001330675.1:c.627T>C, NM_001330673.2:c.*71T>A, NM_001330673.2:c.*71T>C, NM_001330673.1:c.*71T>A, NM_001330673.1:c.*71T>C, NM_001102667.2:c.720T>A, NM_001102667.2:c.720T>C, NM_001102667.1:c.720T>A, NM_001102667.1:c.720T>C, NP_002780.1:p.His240Gln, NP_001096138.1:p.His169Gln, NP_001317605.1:p.His240Gln, NP_001317604.1:p.His209Gln, NP_001096137.1:p.His240Gln

Select item 20702619.

rs2070261 has merged into rs8053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:78548878 (GRCh38)
15:78841220 (GRCh37)
Canonical SPDI:: NC_000015.10:78548877:T:A,NC_000015.10:78548877:T:C
Gene:: PSMA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.397549/110932 (ALFA)
T=0.087161/1461 (TOMMO)
T=0.112628/330 (KOREAN)
T=0.125546/230 (Korea1K)
T=0.178431/91 (SGDP_PRJ)
T=0.189394/150 (PRJEB37584)
T=0.203704/11 (Siberian)
T=0.226216/428 (HapMap)
T=0.234564/18456 (PAGE_STUDY)
T=0.244691/1225 (1000Genomes)
T=0.25/54 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.321043/84977 (TOPMED)
T=0.332237/101 (FINRISK)
T=0.334494/83643 (GnomAD_exomes)
T=0.336673/47139 (GnomAD)
T=0.338588/41049 (ExAC)
T=0.340824/182 (MGP)
T=0.357836/4644 (GoESP)
C=0.407407/22 (PRJEB36033)
T=0.417187/1869 (Estonian)
T=0.41984/419 (GoNL)
T=0.439024/1692 (ALSPAC)
T=0.446063/1654 (TWINSUK)
T=0.45/270 (NorthernSweden)
HGVS:: NC_000015.10:g.78548878T>A, NC_000015.10:g.78548878T>C, NC_000015.9:g.78841220T>A, NC_000015.9:g.78841220T>C, NM_002789.6:c.720T>A, NM_002789.6:c.720T>C, NM_002789.5:c.720T>A, NM_002789.5:c.720T>C, NM_002789.4:c.720T>A, NM_002789.4:c.720T>C, NM_001102668.3:c.507T>A, NM_001102668.3:c.507T>C, NM_001102668.2:c.507T>A, NM_001102668.2:c.507T>C, NM_001102668.1:c.507T>A, NM_001102668.1:c.507T>C, NM_001330676.2:c.720T>A, NM_001330676.2:c.720T>C, NM_001330676.1:c.720T>A, NM_001330676.1:c.720T>C, NM_001330675.2:c.627T>A, NM_001330675.2:c.627T>C, NM_001330675.1:c.627T>A, NM_001330675.1:c.627T>C, NM_001330673.2:c.*71T>A, NM_001330673.2:c.*71T>C, NM_001330673.1:c.*71T>A, NM_001330673.1:c.*71T>C, NM_001102667.2:c.720T>A, NM_001102667.2:c.720T>C, NM_001102667.1:c.720T>A, NM_001102667.1:c.720T>C, NP_002780.1:p.His240Gln, NP_001096138.1:p.His169Gln, NP_001317605.1:p.His240Gln, NP_001317604.1:p.His209Gln, NP_001096137.1:p.His240Gln

Select item 105201610.

rs1052016 has merged into rs8053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:78548878 (GRCh38)
15:78841220 (GRCh37)
Canonical SPDI:: NC_000015.10:78548877:T:A,NC_000015.10:78548877:T:C
Gene:: PSMA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.397549/110932 (ALFA)
T=0.087161/1461 (TOMMO)
T=0.112628/330 (KOREAN)
T=0.125546/230 (Korea1K)
T=0.178431/91 (SGDP_PRJ)
T=0.189394/150 (PRJEB37584)
T=0.203704/11 (Siberian)
T=0.226216/428 (HapMap)
T=0.234564/18456 (PAGE_STUDY)
T=0.244691/1225 (1000Genomes)
T=0.25/54 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.321043/84977 (TOPMED)
T=0.332237/101 (FINRISK)
T=0.334494/83643 (GnomAD_exomes)
T=0.336673/47139 (GnomAD)
T=0.338588/41049 (ExAC)
T=0.340824/182 (MGP)
T=0.357836/4644 (GoESP)
C=0.407407/22 (PRJEB36033)
T=0.417187/1869 (Estonian)
T=0.41984/419 (GoNL)
T=0.439024/1692 (ALSPAC)
T=0.446063/1654 (TWINSUK)
T=0.45/270 (NorthernSweden)
HGVS:: NC_000015.10:g.78548878T>A, NC_000015.10:g.78548878T>C, NC_000015.9:g.78841220T>A, NC_000015.9:g.78841220T>C, NM_002789.6:c.720T>A, NM_002789.6:c.720T>C, NM_002789.5:c.720T>A, NM_002789.5:c.720T>C, NM_002789.4:c.720T>A, NM_002789.4:c.720T>C, NM_001102668.3:c.507T>A, NM_001102668.3:c.507T>C, NM_001102668.2:c.507T>A, NM_001102668.2:c.507T>C, NM_001102668.1:c.507T>A, NM_001102668.1:c.507T>C, NM_001330676.2:c.720T>A, NM_001330676.2:c.720T>C, NM_001330676.1:c.720T>A, NM_001330676.1:c.720T>C, NM_001330675.2:c.627T>A, NM_001330675.2:c.627T>C, NM_001330675.1:c.627T>A, NM_001330675.1:c.627T>C, NM_001330673.2:c.*71T>A, NM_001330673.2:c.*71T>C, NM_001330673.1:c.*71T>A, NM_001330673.1:c.*71T>C, NM_001102667.2:c.720T>A, NM_001102667.2:c.720T>C, NM_001102667.1:c.720T>A, NM_001102667.1:c.720T>C, NP_002780.1:p.His240Gln, NP_001096138.1:p.His169Gln, NP_001317605.1:p.His240Gln, NP_001317604.1:p.His209Gln, NP_001096137.1:p.His240Gln

Select item 1753911.

rs17539 has merged into rs8053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:78548878 (GRCh38)
15:78841220 (GRCh37)
Canonical SPDI:: NC_000015.10:78548877:T:A,NC_000015.10:78548877:T:C
Gene:: PSMA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.397549/110932 (ALFA)
T=0.087161/1461 (TOMMO)
T=0.112628/330 (KOREAN)
T=0.125546/230 (Korea1K)
T=0.178431/91 (SGDP_PRJ)
T=0.189394/150 (PRJEB37584)
T=0.203704/11 (Siberian)
T=0.226216/428 (HapMap)
T=0.234564/18456 (PAGE_STUDY)
T=0.244691/1225 (1000Genomes)
T=0.25/54 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.321043/84977 (TOPMED)
T=0.332237/101 (FINRISK)
T=0.334494/83643 (GnomAD_exomes)
T=0.336673/47139 (GnomAD)
T=0.338588/41049 (ExAC)
T=0.340824/182 (MGP)
T=0.357836/4644 (GoESP)
C=0.407407/22 (PRJEB36033)
T=0.417187/1869 (Estonian)
T=0.41984/419 (GoNL)
T=0.439024/1692 (ALSPAC)
T=0.446063/1654 (TWINSUK)
T=0.45/270 (NorthernSweden)
HGVS:: NC_000015.10:g.78548878T>A, NC_000015.10:g.78548878T>C, NC_000015.9:g.78841220T>A, NC_000015.9:g.78841220T>C, NM_002789.6:c.720T>A, NM_002789.6:c.720T>C, NM_002789.5:c.720T>A, NM_002789.5:c.720T>C, NM_002789.4:c.720T>A, NM_002789.4:c.720T>C, NM_001102668.3:c.507T>A, NM_001102668.3:c.507T>C, NM_001102668.2:c.507T>A, NM_001102668.2:c.507T>C, NM_001102668.1:c.507T>A, NM_001102668.1:c.507T>C, NM_001330676.2:c.720T>A, NM_001330676.2:c.720T>C, NM_001330676.1:c.720T>A, NM_001330676.1:c.720T>C, NM_001330675.2:c.627T>A, NM_001330675.2:c.627T>C, NM_001330675.1:c.627T>A, NM_001330675.1:c.627T>C, NM_001330673.2:c.*71T>A, NM_001330673.2:c.*71T>C, NM_001330673.1:c.*71T>A, NM_001330673.1:c.*71T>C, NM_001102667.2:c.720T>A, NM_001102667.2:c.720T>C, NM_001102667.1:c.720T>A, NM_001102667.1:c.720T>C, NP_002780.1:p.His240Gln, NP_001096138.1:p.His169Gln, NP_001317605.1:p.His240Gln, NP_001317604.1:p.His209Gln, NP_001096137.1:p.His240Gln

dbSNP

Result Filters

Validation Status

Publication

Function Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 11

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity