rs2274756 - SNP

Select item 1179980701.

rs117998070 has merged into rs17577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:46014472 (GRCh38)
20:44643111 (GRCh37)
Canonical SPDI:: NC_000020.11:46014471:G:A,NC_000020.11:46014471:G:C
Gene:: MMP9 (Varview), SLC12A5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.142126/35451 (ALFA)
A=0.131086/70 (MGP)
A=0.131419/1474 (GoESP)
A=0.131741/386 (KOREAN)
A=0.133734/245 (Korea1K)
A=0.13781/511 (TWINSUK)
A=0.146601/565 (ALSPAC)
A=0.148623/39339 (TOPMED)
A=0.148752/310 (HGDP_Stanford)
A=0.149299/149 (GoNL)
A=0.152366/21352 (GnomAD)
A=0.155556/14 (PRJEB36033)
A=0.158671/24487 (GnomAD_exomes)
A=0.160432/12625 (PAGE_STUDY)
A=0.163291/129 (PRJEB37584)
A=0.165033/101 (Vietnamese)
A=0.171296/37 (Qatari)
A=0.175/7 (GENOME_DK)
A=0.183333/110 (NorthernSweden)
A=0.184104/922 (1000Genomes)
A=0.189286/848 (Estonian)
A=0.191344/3207 (TOMMO)
A=0.19186/363 (HapMap)
A=0.21582/4281 (ExAC)
G=0.444444/8 (Siberian)
G=0.465753/68 (SGDP_PRJ)
HGVS:: NC_000020.11:g.46014472G>A, NC_000020.11:g.46014472G>C, NC_000020.10:g.44643111G>A, NC_000020.10:g.44643111G>C, NG_011468.1:g.10565G>A, NG_011468.1:g.10565G>C, NM_004994.3:c.2003G>A, NM_004994.3:c.2003G>C, NM_004994.2:c.2003G>A, NM_004994.2:c.2003G>C, NR_147699.1:n.985C>T, NR_147699.1:n.985C>G, NP_004985.2:p.Arg668Gln, NP_004985.2:p.Arg668Pro

Select item 581781872.

rs58178187 has merged into rs17577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:46014472 (GRCh38)
20:44643111 (GRCh37)
Canonical SPDI:: NC_000020.11:46014471:G:A,NC_000020.11:46014471:G:C
Gene:: MMP9 (Varview), SLC12A5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.142126/35451 (ALFA)
A=0.131086/70 (MGP)
A=0.131419/1474 (GoESP)
A=0.131741/386 (KOREAN)
A=0.133734/245 (Korea1K)
A=0.13781/511 (TWINSUK)
A=0.146601/565 (ALSPAC)
A=0.148623/39339 (TOPMED)
A=0.148752/310 (HGDP_Stanford)
A=0.149299/149 (GoNL)
A=0.152366/21352 (GnomAD)
A=0.155556/14 (PRJEB36033)
A=0.158671/24487 (GnomAD_exomes)
A=0.160432/12625 (PAGE_STUDY)
A=0.163291/129 (PRJEB37584)
A=0.165033/101 (Vietnamese)
A=0.171296/37 (Qatari)
A=0.175/7 (GENOME_DK)
A=0.183333/110 (NorthernSweden)
A=0.184104/922 (1000Genomes)
A=0.189286/848 (Estonian)
A=0.191344/3207 (TOMMO)
A=0.19186/363 (HapMap)
A=0.21582/4281 (ExAC)
G=0.444444/8 (Siberian)
G=0.465753/68 (SGDP_PRJ)
HGVS:: NC_000020.11:g.46014472G>A, NC_000020.11:g.46014472G>C, NC_000020.10:g.44643111G>A, NC_000020.10:g.44643111G>C, NG_011468.1:g.10565G>A, NG_011468.1:g.10565G>C, NM_004994.3:c.2003G>A, NM_004994.3:c.2003G>C, NM_004994.2:c.2003G>A, NM_004994.2:c.2003G>C, NR_147699.1:n.985C>T, NR_147699.1:n.985C>G, NP_004985.2:p.Arg668Gln, NP_004985.2:p.Arg668Pro

Select item 174026813.

rs17402681 has merged into rs17577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:46014472 (GRCh38)
20:44643111 (GRCh37)
Canonical SPDI:: NC_000020.11:46014471:G:A,NC_000020.11:46014471:G:C
Gene:: MMP9 (Varview), SLC12A5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.142126/35451 (ALFA)
A=0.131086/70 (MGP)
A=0.131419/1474 (GoESP)
A=0.131741/386 (KOREAN)
A=0.133734/245 (Korea1K)
A=0.13781/511 (TWINSUK)
A=0.146601/565 (ALSPAC)
A=0.148623/39339 (TOPMED)
A=0.148752/310 (HGDP_Stanford)
A=0.149299/149 (GoNL)
A=0.152366/21352 (GnomAD)
A=0.155556/14 (PRJEB36033)
A=0.158671/24487 (GnomAD_exomes)
A=0.160432/12625 (PAGE_STUDY)
A=0.163291/129 (PRJEB37584)
A=0.165033/101 (Vietnamese)
A=0.171296/37 (Qatari)
A=0.175/7 (GENOME_DK)
A=0.183333/110 (NorthernSweden)
A=0.184104/922 (1000Genomes)
A=0.189286/848 (Estonian)
A=0.191344/3207 (TOMMO)
A=0.19186/363 (HapMap)
A=0.21582/4281 (ExAC)
G=0.444444/8 (Siberian)
G=0.465753/68 (SGDP_PRJ)
HGVS:: NC_000020.11:g.46014472G>A, NC_000020.11:g.46014472G>C, NC_000020.10:g.44643111G>A, NC_000020.10:g.44643111G>C, NG_011468.1:g.10565G>A, NG_011468.1:g.10565G>C, NM_004994.3:c.2003G>A, NM_004994.3:c.2003G>C, NM_004994.2:c.2003G>A, NM_004994.2:c.2003G>C, NR_147699.1:n.985C>T, NR_147699.1:n.985C>G, NP_004985.2:p.Arg668Gln, NP_004985.2:p.Arg668Pro

Select item 173762264.

rs17376226 has merged into rs17577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:46014472 (GRCh38)
20:44643111 (GRCh37)
Canonical SPDI:: NC_000020.11:46014471:G:A,NC_000020.11:46014471:G:C
Gene:: MMP9 (Varview), SLC12A5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.142126/35451 (ALFA)
A=0.131086/70 (MGP)
A=0.131419/1474 (GoESP)
A=0.131741/386 (KOREAN)
A=0.133734/245 (Korea1K)
A=0.13781/511 (TWINSUK)
A=0.146601/565 (ALSPAC)
A=0.148623/39339 (TOPMED)
A=0.148752/310 (HGDP_Stanford)
A=0.149299/149 (GoNL)
A=0.152366/21352 (GnomAD)
A=0.155556/14 (PRJEB36033)
A=0.158671/24487 (GnomAD_exomes)
A=0.160432/12625 (PAGE_STUDY)
A=0.163291/129 (PRJEB37584)
A=0.165033/101 (Vietnamese)
A=0.171296/37 (Qatari)
A=0.175/7 (GENOME_DK)
A=0.183333/110 (NorthernSweden)
A=0.184104/922 (1000Genomes)
A=0.189286/848 (Estonian)
A=0.191344/3207 (TOMMO)
A=0.19186/363 (HapMap)
A=0.21582/4281 (ExAC)
G=0.444444/8 (Siberian)
G=0.465753/68 (SGDP_PRJ)
HGVS:: NC_000020.11:g.46014472G>A, NC_000020.11:g.46014472G>C, NC_000020.10:g.44643111G>A, NC_000020.10:g.44643111G>C, NG_011468.1:g.10565G>A, NG_011468.1:g.10565G>C, NM_004994.3:c.2003G>A, NM_004994.3:c.2003G>C, NM_004994.2:c.2003G>A, NM_004994.2:c.2003G>C, NR_147699.1:n.985C>T, NR_147699.1:n.985C>G, NP_004985.2:p.Arg668Gln, NP_004985.2:p.Arg668Pro

Select item 115568795.

rs11556879 has merged into rs17577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:46014472 (GRCh38)
20:44643111 (GRCh37)
Canonical SPDI:: NC_000020.11:46014471:G:A,NC_000020.11:46014471:G:C
Gene:: MMP9 (Varview), SLC12A5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.142126/35451 (ALFA)
A=0.131086/70 (MGP)
A=0.131419/1474 (GoESP)
A=0.131741/386 (KOREAN)
A=0.133734/245 (Korea1K)
A=0.13781/511 (TWINSUK)
A=0.146601/565 (ALSPAC)
A=0.148623/39339 (TOPMED)
A=0.148752/310 (HGDP_Stanford)
A=0.149299/149 (GoNL)
A=0.152366/21352 (GnomAD)
A=0.155556/14 (PRJEB36033)
A=0.158671/24487 (GnomAD_exomes)
A=0.160432/12625 (PAGE_STUDY)
A=0.163291/129 (PRJEB37584)
A=0.165033/101 (Vietnamese)
A=0.171296/37 (Qatari)
A=0.175/7 (GENOME_DK)
A=0.183333/110 (NorthernSweden)
A=0.184104/922 (1000Genomes)
A=0.189286/848 (Estonian)
A=0.191344/3207 (TOMMO)
A=0.19186/363 (HapMap)
A=0.21582/4281 (ExAC)
G=0.444444/8 (Siberian)
G=0.465753/68 (SGDP_PRJ)
HGVS:: NC_000020.11:g.46014472G>A, NC_000020.11:g.46014472G>C, NC_000020.10:g.44643111G>A, NC_000020.10:g.44643111G>C, NG_011468.1:g.10565G>A, NG_011468.1:g.10565G>C, NM_004994.3:c.2003G>A, NM_004994.3:c.2003G>C, NM_004994.2:c.2003G>A, NM_004994.2:c.2003G>C, NR_147699.1:n.985C>T, NR_147699.1:n.985C>G, NP_004985.2:p.Arg668Gln, NP_004985.2:p.Arg668Pro

Select item 31971946.

rs3197194 has merged into rs17577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:46014472 (GRCh38)
20:44643111 (GRCh37)
Canonical SPDI:: NC_000020.11:46014471:G:A,NC_000020.11:46014471:G:C
Gene:: MMP9 (Varview), SLC12A5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.142126/35451 (ALFA)
A=0.131086/70 (MGP)
A=0.131419/1474 (GoESP)
A=0.131741/386 (KOREAN)
A=0.133734/245 (Korea1K)
A=0.13781/511 (TWINSUK)
A=0.146601/565 (ALSPAC)
A=0.148623/39339 (TOPMED)
A=0.148752/310 (HGDP_Stanford)
A=0.149299/149 (GoNL)
A=0.152366/21352 (GnomAD)
A=0.155556/14 (PRJEB36033)
A=0.158671/24487 (GnomAD_exomes)
A=0.160432/12625 (PAGE_STUDY)
A=0.163291/129 (PRJEB37584)
A=0.165033/101 (Vietnamese)
A=0.171296/37 (Qatari)
A=0.175/7 (GENOME_DK)
A=0.183333/110 (NorthernSweden)
A=0.184104/922 (1000Genomes)
A=0.189286/848 (Estonian)
A=0.191344/3207 (TOMMO)
A=0.19186/363 (HapMap)
A=0.21582/4281 (ExAC)
G=0.444444/8 (Siberian)
G=0.465753/68 (SGDP_PRJ)
HGVS:: NC_000020.11:g.46014472G>A, NC_000020.11:g.46014472G>C, NC_000020.10:g.44643111G>A, NC_000020.10:g.44643111G>C, NG_011468.1:g.10565G>A, NG_011468.1:g.10565G>C, NM_004994.3:c.2003G>A, NM_004994.3:c.2003G>C, NM_004994.2:c.2003G>A, NM_004994.2:c.2003G>C, NR_147699.1:n.985C>T, NR_147699.1:n.985C>G, NP_004985.2:p.Arg668Gln, NP_004985.2:p.Arg668Pro

Select item 22747567.

rs2274756 has merged into rs17577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:46014472 (GRCh38)
20:44643111 (GRCh37)
Canonical SPDI:: NC_000020.11:46014471:G:A,NC_000020.11:46014471:G:C
Gene:: MMP9 (Varview), SLC12A5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.142126/35451 (ALFA)
A=0.131086/70 (MGP)
A=0.131419/1474 (GoESP)
A=0.131741/386 (KOREAN)
A=0.133734/245 (Korea1K)
A=0.13781/511 (TWINSUK)
A=0.146601/565 (ALSPAC)
A=0.148623/39339 (TOPMED)
A=0.148752/310 (HGDP_Stanford)
A=0.149299/149 (GoNL)
A=0.152366/21352 (GnomAD)
A=0.155556/14 (PRJEB36033)
A=0.158671/24487 (GnomAD_exomes)
A=0.160432/12625 (PAGE_STUDY)
A=0.163291/129 (PRJEB37584)
A=0.165033/101 (Vietnamese)
A=0.171296/37 (Qatari)
A=0.175/7 (GENOME_DK)
A=0.183333/110 (NorthernSweden)
A=0.184104/922 (1000Genomes)
A=0.189286/848 (Estonian)
A=0.191344/3207 (TOMMO)
A=0.19186/363 (HapMap)
A=0.21582/4281 (ExAC)
G=0.444444/8 (Siberian)
G=0.465753/68 (SGDP_PRJ)
HGVS:: NC_000020.11:g.46014472G>A, NC_000020.11:g.46014472G>C, NC_000020.10:g.44643111G>A, NC_000020.10:g.44643111G>C, NG_011468.1:g.10565G>A, NG_011468.1:g.10565G>C, NM_004994.3:c.2003G>A, NM_004994.3:c.2003G>C, NM_004994.2:c.2003G>A, NM_004994.2:c.2003G>C, NR_147699.1:n.985C>T, NR_147699.1:n.985C>G, NP_004985.2:p.Arg668Gln, NP_004985.2:p.Arg668Pro

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