rs3803182 - SNP

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Select item 38031821.

rs3803182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48004440 (GRCh38)
12:48398223 (GRCh37)
Canonical SPDI:: NC_000012.12:48004439:G:A
Gene:: COL2A1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.166216/4551 (ALFA)
G=0.05/2 (GENOME_DK)
G=0.125/75 (NorthernSweden)
G=0.133887/516 (ALSPAC)
G=0.135113/501 (TWINSUK)
G=0.147768/662 (Estonian)
G=0.157407/34 (Qatari)
G=0.177734/91 (SGDP_PRJ)
G=0.203704/11 (Siberian)
G=0.204365/28627 (GnomAD)
G=0.221814/58712 (TOPMED)
G=0.269363/1349 (1000Genomes)
G=0.359439/1051 (KOREAN)
G=0.391598/6562 (TOMMO)
G=0.45283/96 (Vietnamese)
HGVS:: NC_000012.12:g.48004440G>A, NC_000012.11:g.48398223G>A, NG_008072.1:g.5063C>T, NM_001844.5:c.-119C>T, NM_001844.4:c.-119C>T, NM_033150.3:c.-119C>T, NM_033150.2:c.-119C>T

Select item 602652322.

rs60265232 has merged into rs3803182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48004440 (GRCh38)
12:48398223 (GRCh37)
Canonical SPDI:: NC_000012.12:48004439:G:A
Gene:: COL2A1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.166216/4551 (ALFA)
G=0.05/2 (GENOME_DK)
G=0.125/75 (NorthernSweden)
G=0.133887/516 (ALSPAC)
G=0.135113/501 (TWINSUK)
G=0.147768/662 (Estonian)
G=0.157407/34 (Qatari)
G=0.177734/91 (SGDP_PRJ)
G=0.203704/11 (Siberian)
G=0.204365/28627 (GnomAD)
G=0.221814/58712 (TOPMED)
G=0.269363/1349 (1000Genomes)
G=0.359439/1051 (KOREAN)
G=0.391598/6562 (TOMMO)
G=0.45283/96 (Vietnamese)
HGVS:: NC_000012.12:g.48004440G>A, NC_000012.11:g.48398223G>A, NG_008072.1:g.5063C>T, NM_001844.5:c.-119C>T, NM_001844.4:c.-119C>T, NM_033150.3:c.-119C>T, NM_033150.2:c.-119C>T