rs1056837 - SNP

Select item 10568371.

rs1056837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:38071007 (GRCh38)
2:38298150 (GRCh37)
Canonical SPDI:: NC_000002.12:38071006:A:G,NC_000002.12:38071006:A:T
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.432389/141002 (ALFA)
A=0.096091/59 (Vietnamese)
A=0.114334/335 (KOREAN)
A=0.128499/101 (PRJEB37584)
A=0.128821/236 (Korea1K)
A=0.147675/2475 (TOMMO)
A=0.16453/77 (SGDP_PRJ)
A=0.192308/10 (Siberian)
G=0.302326/26 (PRJEB36033)
A=0.335526/102 (FINRISK)
A=0.356481/77 (Qatari)
A=0.365944/92010 (GnomAD_exomes)
A=0.37796/45870 (ExAC)
A=0.389513/208 (MGP)
A=0.396667/238 (NorthernSweden)
A=0.398657/1996 (1000Genomes)
A=0.421205/1887 (Estonian)
A=0.443435/1709 (ALSPAC)
A=0.443888/443 (GoNL)
G=0.453714/5901 (GoESP)
A=0.455771/1690 (TWINSUK)
A=0.457143/864 (HapMap)
A=0.485895/38239 (PAGE_STUDY)
G=0.494858/69296 (GnomAD)
A=0.495818/131238 (TOPMED)
A=0.498615/360 (PharmGKB)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000002.12:g.38071007A>G, NC_000002.12:g.38071007A>T, NC_000002.11:g.38298150A>G, NC_000002.11:g.38298150A>T, NG_008386.2:g.10095T>C, NG_008386.2:g.10095T>A, NM_000104.4:c.1347T>C, NM_000104.4:c.1347T>A, NM_000104.3:c.1347T>C, NM_000104.3:c.1347T>A, NP_000095.2:p.Asp449Glu

PubMed LitVar

Select item 3865144202.

rs386514420 has merged into rs1056837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:38071007 (GRCh38)
2:38298150 (GRCh37)
Canonical SPDI:: NC_000002.12:38071006:A:G,NC_000002.12:38071006:A:T
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.432389/141002 (ALFA)
A=0.096091/59 (Vietnamese)
A=0.114334/335 (KOREAN)
A=0.128499/101 (PRJEB37584)
A=0.128821/236 (Korea1K)
A=0.147675/2475 (TOMMO)
A=0.16453/77 (SGDP_PRJ)
A=0.192308/10 (Siberian)
G=0.302326/26 (PRJEB36033)
A=0.335526/102 (FINRISK)
A=0.356481/77 (Qatari)
A=0.365944/92010 (GnomAD_exomes)
A=0.37796/45870 (ExAC)
A=0.389513/208 (MGP)
A=0.396667/238 (NorthernSweden)
A=0.398657/1996 (1000Genomes)
A=0.421205/1887 (Estonian)
A=0.443435/1709 (ALSPAC)
A=0.443888/443 (GoNL)
G=0.453714/5901 (GoESP)
A=0.455771/1690 (TWINSUK)
A=0.457143/864 (HapMap)
A=0.485895/38239 (PAGE_STUDY)
G=0.494858/69296 (GnomAD)
A=0.495818/131238 (TOPMED)
A=0.498615/360 (PharmGKB)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000002.12:g.38071007A>G, NC_000002.12:g.38071007A>T, NC_000002.11:g.38298150A>G, NC_000002.11:g.38298150A>T, NG_008386.2:g.10095T>C, NG_008386.2:g.10095T>A, NM_000104.4:c.1347T>C, NM_000104.4:c.1347T>A, NM_000104.3:c.1347T>C, NM_000104.3:c.1347T>A, NP_000095.2:p.Asp449Glu

Select item 1176359293.

rs117635929 has merged into rs1056837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:38071007 (GRCh38)
2:38298150 (GRCh37)
Canonical SPDI:: NC_000002.12:38071006:A:G,NC_000002.12:38071006:A:T
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.432389/141002 (ALFA)
A=0.096091/59 (Vietnamese)
A=0.114334/335 (KOREAN)
A=0.128499/101 (PRJEB37584)
A=0.128821/236 (Korea1K)
A=0.147675/2475 (TOMMO)
A=0.16453/77 (SGDP_PRJ)
A=0.192308/10 (Siberian)
G=0.302326/26 (PRJEB36033)
A=0.335526/102 (FINRISK)
A=0.356481/77 (Qatari)
A=0.365944/92010 (GnomAD_exomes)
A=0.37796/45870 (ExAC)
A=0.389513/208 (MGP)
A=0.396667/238 (NorthernSweden)
A=0.398657/1996 (1000Genomes)
A=0.421205/1887 (Estonian)
A=0.443435/1709 (ALSPAC)
A=0.443888/443 (GoNL)
G=0.453714/5901 (GoESP)
A=0.455771/1690 (TWINSUK)
A=0.457143/864 (HapMap)
A=0.485895/38239 (PAGE_STUDY)
G=0.494858/69296 (GnomAD)
A=0.495818/131238 (TOPMED)
A=0.498615/360 (PharmGKB)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000002.12:g.38071007A>G, NC_000002.12:g.38071007A>T, NC_000002.11:g.38298150A>G, NC_000002.11:g.38298150A>T, NG_008386.2:g.10095T>C, NG_008386.2:g.10095T>A, NM_000104.4:c.1347T>C, NM_000104.4:c.1347T>A, NM_000104.3:c.1347T>C, NM_000104.3:c.1347T>A, NP_000095.2:p.Asp449Glu

Select item 584813204.

rs58481320 has merged into rs1056837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:38071007 (GRCh38)
2:38298150 (GRCh37)
Canonical SPDI:: NC_000002.12:38071006:A:G,NC_000002.12:38071006:A:T
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.432389/141002 (ALFA)
A=0.096091/59 (Vietnamese)
A=0.114334/335 (KOREAN)
A=0.128499/101 (PRJEB37584)
A=0.128821/236 (Korea1K)
A=0.147675/2475 (TOMMO)
A=0.16453/77 (SGDP_PRJ)
A=0.192308/10 (Siberian)
G=0.302326/26 (PRJEB36033)
A=0.335526/102 (FINRISK)
A=0.356481/77 (Qatari)
A=0.365944/92010 (GnomAD_exomes)
A=0.37796/45870 (ExAC)
A=0.389513/208 (MGP)
A=0.396667/238 (NorthernSweden)
A=0.398657/1996 (1000Genomes)
A=0.421205/1887 (Estonian)
A=0.443435/1709 (ALSPAC)
A=0.443888/443 (GoNL)
G=0.453714/5901 (GoESP)
A=0.455771/1690 (TWINSUK)
A=0.457143/864 (HapMap)
A=0.485895/38239 (PAGE_STUDY)
G=0.494858/69296 (GnomAD)
A=0.495818/131238 (TOPMED)
A=0.498615/360 (PharmGKB)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000002.12:g.38071007A>G, NC_000002.12:g.38071007A>T, NC_000002.11:g.38298150A>G, NC_000002.11:g.38298150A>T, NG_008386.2:g.10095T>C, NG_008386.2:g.10095T>A, NM_000104.4:c.1347T>C, NM_000104.4:c.1347T>A, NM_000104.3:c.1347T>C, NM_000104.3:c.1347T>A, NP_000095.2:p.Asp449Glu

Select item 173333975.

rs17333397 has merged into rs1056837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:38071007 (GRCh38)
2:38298150 (GRCh37)
Canonical SPDI:: NC_000002.12:38071006:A:G,NC_000002.12:38071006:A:T
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.432389/141002 (ALFA)
A=0.096091/59 (Vietnamese)
A=0.114334/335 (KOREAN)
A=0.128499/101 (PRJEB37584)
A=0.128821/236 (Korea1K)
A=0.147675/2475 (TOMMO)
A=0.16453/77 (SGDP_PRJ)
A=0.192308/10 (Siberian)
G=0.302326/26 (PRJEB36033)
A=0.335526/102 (FINRISK)
A=0.356481/77 (Qatari)
A=0.365944/92010 (GnomAD_exomes)
A=0.37796/45870 (ExAC)
A=0.389513/208 (MGP)
A=0.396667/238 (NorthernSweden)
A=0.398657/1996 (1000Genomes)
A=0.421205/1887 (Estonian)
A=0.443435/1709 (ALSPAC)
A=0.443888/443 (GoNL)
G=0.453714/5901 (GoESP)
A=0.455771/1690 (TWINSUK)
A=0.457143/864 (HapMap)
A=0.485895/38239 (PAGE_STUDY)
G=0.494858/69296 (GnomAD)
A=0.495818/131238 (TOPMED)
A=0.498615/360 (PharmGKB)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000002.12:g.38071007A>G, NC_000002.12:g.38071007A>T, NC_000002.11:g.38298150A>G, NC_000002.11:g.38298150A>T, NG_008386.2:g.10095T>C, NG_008386.2:g.10095T>A, NM_000104.4:c.1347T>C, NM_000104.4:c.1347T>A, NM_000104.3:c.1347T>C, NM_000104.3:c.1347T>A, NP_000095.2:p.Asp449Glu

Select item 37318496.

rs3731849 has merged into rs1056837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:38071007 (GRCh38)
2:38298150 (GRCh37)
Canonical SPDI:: NC_000002.12:38071006:A:G,NC_000002.12:38071006:A:T
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.432389/141002 (ALFA)
A=0.096091/59 (Vietnamese)
A=0.114334/335 (KOREAN)
A=0.128499/101 (PRJEB37584)
A=0.128821/236 (Korea1K)
A=0.147675/2475 (TOMMO)
A=0.16453/77 (SGDP_PRJ)
A=0.192308/10 (Siberian)
G=0.302326/26 (PRJEB36033)
A=0.335526/102 (FINRISK)
A=0.356481/77 (Qatari)
A=0.365944/92010 (GnomAD_exomes)
A=0.37796/45870 (ExAC)
A=0.389513/208 (MGP)
A=0.396667/238 (NorthernSweden)
A=0.398657/1996 (1000Genomes)
A=0.421205/1887 (Estonian)
A=0.443435/1709 (ALSPAC)
A=0.443888/443 (GoNL)
G=0.453714/5901 (GoESP)
A=0.455771/1690 (TWINSUK)
A=0.457143/864 (HapMap)
A=0.485895/38239 (PAGE_STUDY)
G=0.494858/69296 (GnomAD)
A=0.495818/131238 (TOPMED)
A=0.498615/360 (PharmGKB)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000002.12:g.38071007A>G, NC_000002.12:g.38071007A>T, NC_000002.11:g.38298150A>G, NC_000002.11:g.38298150A>T, NG_008386.2:g.10095T>C, NG_008386.2:g.10095T>A, NM_000104.4:c.1347T>C, NM_000104.4:c.1347T>A, NM_000104.3:c.1347T>C, NM_000104.3:c.1347T>A, NP_000095.2:p.Asp449Glu

dbSNP

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