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rs137853013

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853013(C;T)
Make rs137853013(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position130969385
GeneATP2C1
is asnp
is mentioned by
dbSNPrs137853013
ebirs137853013
HLIrs137853013
Exacrs137853013
Varsomers137853013
Maprs137853013
PheGenIrs137853013
hapmaprs137853013
1000 genomesrs137853013
hgdprs137853013
ensemblrs137853013
gopubmedrs137853013
geneviewrs137853013
scholarrs137853013
googlers137853013
pharmgkbrs137853013
gwascentralrs137853013
openSNPrs137853013
23andMers137853013
23andMe allrs137853013
SNP Nexus

SNPshotrs137853013
SNPdbers137853013
MSV3drs137853013
GWAS Ctlgrs137853013
Max Magnitude0
OMIM604384
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853013(T;T)
Alt rs137853013(T;T)
Reference rs137853013(C;C)
Significance Pathogenic
Disease Familial benign pemphigus
Variation info
Gene ATP2C1
CLNDBN Familial benign pemphigus
Reversed 0
HGVS NC_000003.11:g.130688229C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005925.2,