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rs137853015

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853015(C;C)
Make rs137853015(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position130980591
GeneATP2C1
is asnp
is mentioned by
dbSNPrs137853015
ebirs137853015
HLIrs137853015
Exacrs137853015
Varsomers137853015
Maprs137853015
PheGenIrs137853015
hapmaprs137853015
1000 genomesrs137853015
hgdprs137853015
ensemblrs137853015
gopubmedrs137853015
geneviewrs137853015
scholarrs137853015
googlers137853015
pharmgkbrs137853015
gwascentralrs137853015
openSNPrs137853015
23andMers137853015
23andMe allrs137853015
SNP Nexus

SNPshotrs137853015
SNPdbers137853015
MSV3drs137853015
GWAS Ctlgrs137853015
Max Magnitude0
OMIM604384
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137853015(C;C)
Alt rs137853015(C;C)
Reference rs137853015(T;T)
Significance Pathogenic
Disease Familial benign pemphigus
Variation info
Gene ATP2C1
CLNDBN Familial benign pemphigus
Reversed 0
HGVS NC_000003.11:g.130699435T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005930.2,