rs245858 - SNP

Select item 2458581.

rs245858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:29127872 (GRCh38)
7:29167488 (GRCh37)
Canonical SPDI:: NC_000007.14:29127871:T:A,NC_000007.14:29127871:T:G
Gene:: CPVL (Varview), LOC101928168 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.406806/3383 (ALFA)
T=0.095442/1599 (TOMMO)
T=0.105895/194 (Korea1K)
T=0.108874/319 (KOREAN)
T=0.125/7 (Siberian)
T=0.148148/32 (Vietnamese)
T=0.15748/80 (SGDP_PRJ)
T=0.243598/1220 (1000Genomes)
T=0.287723/1289 (Estonian)
T=0.313113/82878 (TOPMED)
T=0.322006/1194 (TWINSUK)
T=0.326674/1259 (ALSPAC)
T=0.355711/355 (GoNL)
T=0.384259/83 (Qatari)
T=0.39/234 (NorthernSweden)
T=0.45/18 (GENOME_DK)
HGVS:: NC_000007.14:g.29127872T>A, NC_000007.14:g.29127872T>G, NC_000007.13:g.29167488T>A, NC_000007.13:g.29167488T>G

Select item 595623432.

rs59562343 has merged into rs245858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:29127872 (GRCh38)
7:29167488 (GRCh37)
Canonical SPDI:: NC_000007.14:29127871:T:A,NC_000007.14:29127871:T:G
Gene:: CPVL (Varview), LOC101928168 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.406806/3383 (ALFA)
T=0.095442/1599 (TOMMO)
T=0.105895/194 (Korea1K)
T=0.108874/319 (KOREAN)
T=0.125/7 (Siberian)
T=0.148148/32 (Vietnamese)
T=0.15748/80 (SGDP_PRJ)
T=0.243598/1220 (1000Genomes)
T=0.287723/1289 (Estonian)
T=0.313113/82878 (TOPMED)
T=0.322006/1194 (TWINSUK)
T=0.326674/1259 (ALSPAC)
T=0.355711/355 (GoNL)
T=0.384259/83 (Qatari)
T=0.39/234 (NorthernSweden)
T=0.45/18 (GENOME_DK)
HGVS:: NC_000007.14:g.29127872T>A, NC_000007.14:g.29127872T>G, NC_000007.13:g.29167488T>A, NC_000007.13:g.29167488T>G

Select item 26876413.

rs2687641 has merged into rs245858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:29127872 (GRCh38)
7:29167488 (GRCh37)
Canonical SPDI:: NC_000007.14:29127871:T:A,NC_000007.14:29127871:T:G
Gene:: CPVL (Varview), LOC101928168 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.406806/3383 (ALFA)
T=0.095442/1599 (TOMMO)
T=0.105895/194 (Korea1K)
T=0.108874/319 (KOREAN)
T=0.125/7 (Siberian)
T=0.148148/32 (Vietnamese)
T=0.15748/80 (SGDP_PRJ)
T=0.243598/1220 (1000Genomes)
T=0.287723/1289 (Estonian)
T=0.313113/82878 (TOPMED)
T=0.322006/1194 (TWINSUK)
T=0.326674/1259 (ALSPAC)
T=0.355711/355 (GoNL)
T=0.384259/83 (Qatari)
T=0.39/234 (NorthernSweden)
T=0.45/18 (GENOME_DK)
HGVS:: NC_000007.14:g.29127872T>A, NC_000007.14:g.29127872T>G, NC_000007.13:g.29167488T>A, NC_000007.13:g.29167488T>G

dbSNP