rs137853014

Orientation

plus

Stabilized

plus

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

Make rs137853014(G;T)

Make rs137853014(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

130975387

Gene

ATP2C1

is a	snp
is	mentioned by
dbSNP	rs137853014
dbSNP (classic)	rs137853014
ClinGen	rs137853014
ebi	rs137853014
HLI	rs137853014
Exac	rs137853014
Gnomad	rs137853014
Varsome	rs137853014
LitVar	rs137853014
Map	rs137853014
PheGenI	rs137853014
Biobank	rs137853014
1000 genomes	rs137853014
hgdp	rs137853014
ensembl	rs137853014
geneview	rs137853014
scholar	rs137853014
google	rs137853014
pharmgkb	rs137853014
gwascentral	rs137853014
openSNP	rs137853014
23andMe	rs137853014
SNPshot	rs137853014
SNPdbe	rs137853014
MSV3d	rs137853014
GWAS Ctlg	rs137853014

Max Magnitude

0

OMIM	604384
Desc
Variant	0006
Related	also

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 UniProtKB (protein)
CLNACC	RCV000005928.2,