rs162549 - SNP

Select item 1625491.

rs162549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:38068313 (GRCh38)
2:38295456 (GRCh37)
Canonical SPDI:: NC_000002.12:38068312:T:A
Gene:: CYP1B1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.196311/3938 (ALFA)
A=0.009259/2 (Vietnamese)
A=0.014721/247 (TOMMO)
A=0.022587/66 (KOREAN)
A=0.030568/56 (Korea1K)
A=0.039141/31 (PRJEB37584)
A=0.099939/328 (PRJEB37766)
A=0.125767/41 (HapMap)
A=0.130231/652 (1000Genomes)
A=0.158178/12448 (PAGE_STUDY)
A=0.175/7 (GENOME_DK)
A=0.175926/38 (Qatari)
A=0.179018/802 (Estonian)
A=0.18874/26441 (GnomAD)
A=0.188866/49991 (TOPMED)
A=0.203407/203 (GoNL)
A=0.213323/791 (TWINSUK)
A=0.218333/131 (NorthernSweden)
A=0.221588/854 (ALSPAC)
T=0.438596/50 (SGDP_PRJ)
T=0.5/3 (Siberian)
HGVS:: NC_000002.12:g.38068313T>A, NC_000002.11:g.38295456T>A, NG_008386.2:g.12789A>T, NM_000104.4:c.*2409A>T, NM_000104.3:c.*2409A>T

Select item 173333522.

rs17333352 has merged into rs162549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:38068313 (GRCh38)
2:38295456 (GRCh37)
Canonical SPDI:: NC_000002.12:38068312:T:A
Gene:: CYP1B1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.196311/3938 (ALFA)
A=0.009259/2 (Vietnamese)
A=0.014721/247 (TOMMO)
A=0.022587/66 (KOREAN)
A=0.030568/56 (Korea1K)
A=0.039141/31 (PRJEB37584)
A=0.099939/328 (PRJEB37766)
A=0.125767/41 (HapMap)
A=0.130231/652 (1000Genomes)
A=0.158178/12448 (PAGE_STUDY)
A=0.175/7 (GENOME_DK)
A=0.175926/38 (Qatari)
A=0.179018/802 (Estonian)
A=0.18874/26441 (GnomAD)
A=0.188866/49991 (TOPMED)
A=0.203407/203 (GoNL)
A=0.213323/791 (TWINSUK)
A=0.218333/131 (NorthernSweden)
A=0.221588/854 (ALSPAC)
T=0.438596/50 (SGDP_PRJ)
T=0.5/3 (Siberian)
HGVS:: NC_000002.12:g.38068313T>A, NC_000002.11:g.38295456T>A, NG_008386.2:g.12789A>T, NM_000104.4:c.*2409A>T, NM_000104.3:c.*2409A>T

Select item 2345473.

rs234547 has merged into rs162549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:38068313 (GRCh38)
2:38295456 (GRCh37)
Canonical SPDI:: NC_000002.12:38068312:T:A
Gene:: CYP1B1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.196311/3938 (ALFA)
A=0.009259/2 (Vietnamese)
A=0.014721/247 (TOMMO)
A=0.022587/66 (KOREAN)
A=0.030568/56 (Korea1K)
A=0.039141/31 (PRJEB37584)
A=0.099939/328 (PRJEB37766)
A=0.125767/41 (HapMap)
A=0.130231/652 (1000Genomes)
A=0.158178/12448 (PAGE_STUDY)
A=0.175/7 (GENOME_DK)
A=0.175926/38 (Qatari)
A=0.179018/802 (Estonian)
A=0.18874/26441 (GnomAD)
A=0.188866/49991 (TOPMED)
A=0.203407/203 (GoNL)
A=0.213323/791 (TWINSUK)
A=0.218333/131 (NorthernSweden)
A=0.221588/854 (ALSPAC)
T=0.438596/50 (SGDP_PRJ)
T=0.5/3 (Siberian)
HGVS:: NC_000002.12:g.38068313T>A, NC_000002.11:g.38295456T>A, NG_008386.2:g.12789A>T, NM_000104.4:c.*2409A>T, NM_000104.3:c.*2409A>T

dbSNP