rs137853012

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs137853012(A;A)

Make rs137853012(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

130963981

Gene

ATP2C1

is a	snp
is	mentioned by
dbSNP	rs137853012
dbSNP (classic)	rs137853012
ClinGen	rs137853012
ebi	rs137853012
HLI	rs137853012
Exac	rs137853012
Gnomad	rs137853012
Varsome	rs137853012
LitVar	rs137853012
Map	rs137853012
PheGenI	rs137853012
Biobank	rs137853012
1000 genomes	rs137853012
hgdp	rs137853012
ensembl	rs137853012
geneview	rs137853012
scholar	rs137853012
google	rs137853012
pharmgkb	rs137853012
gwascentral	rs137853012
openSNP	rs137853012
23andMe	rs137853012
SNPshot	rs137853012
SNPdbe	rs137853012
MSV3d	rs137853012
GWAS Ctlg	rs137853012

Max Magnitude

0

OMIM	604384
Desc
Variant	0002
Related	also

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 UniProtKB (protein)
CLNACC	RCV000005924.2,