rs137853015

Orientation

plus

Stabilized

plus

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

Make rs137853015(C;C)

Make rs137853015(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

130980591

Gene

ATP2C1

is a	snp
is	mentioned by
dbSNP	rs137853015
dbSNP (classic)	rs137853015
ClinGen	rs137853015
ebi	rs137853015
HLI	rs137853015
Exac	rs137853015
Gnomad	rs137853015
Varsome	rs137853015
LitVar	rs137853015
Map	rs137853015
PheGenI	rs137853015
Biobank	rs137853015
1000 genomes	rs137853015
hgdp	rs137853015
ensembl	rs137853015
geneview	rs137853015
scholar	rs137853015
google	rs137853015
pharmgkb	rs137853015
gwascentral	rs137853015
openSNP	rs137853015
23andMe	rs137853015
SNPshot	rs137853015
SNPdbe	rs137853015
MSV3d	rs137853015
GWAS Ctlg	rs137853015

Max Magnitude

0

OMIM	604384
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137853015(C;C)
Alt	rs137853015(C;C)
Reference	Rs137853015(T;T)
Significance	Pathogenic
Disease	Familial benign pemphigus
Variation	info
Gene	ATP2C1
CLNDBN	Familial benign pemphigus
Reversed	0
HGVS	NC_000003.11:g.130699435T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005930.2,