SNP - NCBI

Format

Choose Destination

Select item 25347191.

rs2534719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:6445263 (GRCh38)
12:6554429 (GRCh37)
Canonical SPDI:: NC_000012.12:6445262:G:A,NC_000012.12:6445262:G:C
Gene:: CD27 (Varview), CD27-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.144057/3498 (ALFA)
C=0.026187/2028 (TOMMO)
C=0.039041/114 (KOREAN)
C=0.039397/285 (Korea4K)
C=0.085386/52 (Vietnamese)
C=0.10303/34 (HapMap)
C=0.125/27 (Qatari)
C=0.149813/80 (MGP)
C=0.156465/1002 (1000Genomes_30X)
C=0.157149/787 (1000Genomes)
C=0.173373/45890 (TOPMED)
C=0.195364/59 (FINRISK)
C=0.195769/23569 (ExAC)
C=0.197524/2569 (GoESP)
C=0.2/8 (GENOME_DK)
C=0.228457/228 (GoNL)
C=0.229241/1027 (Estonian)
C=0.235707/874 (TWINSUK)
C=0.24/144 (NorthernSweden)
C=0.256098/987 (ALSPAC)
G=0.438596/50 (SGDP_PRJ)
G=0.5/4 (Siberian)
HGVS:: NC_000012.12:g.6445263G>A, NC_000012.12:g.6445263G>C, NC_000012.11:g.6554429G>A, NC_000012.11:g.6554429G>C, NG_031995.1:g.5379G>A, NG_031995.1:g.5379G>C, NG_125026.1:g.273G>A, NG_125026.1:g.273G>C

dbSNP