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rs137853014

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853014(G;T)
Make rs137853014(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position130975387
GeneATP2C1
is asnp
is mentioned by
dbSNPrs137853014
ebirs137853014
HLIrs137853014
Exacrs137853014
Varsomers137853014
Maprs137853014
PheGenIrs137853014
hapmaprs137853014
1000 genomesrs137853014
hgdprs137853014
ensemblrs137853014
gopubmedrs137853014
geneviewrs137853014
scholarrs137853014
googlers137853014
pharmgkbrs137853014
gwascentralrs137853014
openSNPrs137853014
23andMers137853014
23andMe allrs137853014
SNP Nexus

SNPshotrs137853014
SNPdbers137853014
MSV3drs137853014
GWAS Ctlgrs137853014
Max Magnitude0
OMIM604384
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853014(T;T)
Alt rs137853014(T;T)
Reference rs137853014(G;G)
Significance Pathogenic
Disease Familial benign pemphigus
Variation info
Gene ATP2C1
CLNDBN Familial benign pemphigus
Reversed 0
HGVS NC_000003.11:g.130694231G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005928.2,