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rs137853012

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853012(A;A)
Make rs137853012(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position130963981
GeneATP2C1
is asnp
is mentioned by
dbSNPrs137853012
ebirs137853012
HLIrs137853012
Exacrs137853012
Varsomers137853012
Maprs137853012
PheGenIrs137853012
hapmaprs137853012
1000 genomesrs137853012
hgdprs137853012
ensemblrs137853012
gopubmedrs137853012
geneviewrs137853012
scholarrs137853012
googlers137853012
pharmgkbrs137853012
gwascentralrs137853012
openSNPrs137853012
23andMers137853012
23andMe allrs137853012
SNP Nexus

SNPshotrs137853012
SNPdbers137853012
MSV3drs137853012
GWAS Ctlgrs137853012
Max Magnitude0
OMIM604384
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853012(A;A)
Alt rs137853012(A;A)
Reference rs137853012(G;G)
Significance Pathogenic
Disease Familial benign pemphigus
Variation info
Gene ATP2C1
CLNDBN Familial benign pemphigus
Reversed 0
HGVS NC_000003.11:g.130682825G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005924.2,