rs121912733

Orientation

plus

Stabilized

plus

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

Make rs121912733(G;T)

Make rs121912733(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

110327725

Gene

ATP2A2

is a	snp
is	mentioned by
dbSNP	rs121912733
dbSNP (classic)	rs121912733
ClinGen	rs121912733
ebi	rs121912733
HLI	rs121912733
Exac	rs121912733
Gnomad	rs121912733
Varsome	rs121912733
LitVar	rs121912733
Map	rs121912733
PheGenI	rs121912733
Biobank	rs121912733
1000 genomes	rs121912733
hgdp	rs121912733
ensembl	rs121912733
geneview	rs121912733
scholar	rs121912733
google	rs121912733
pharmgkb	rs121912733
gwascentral	rs121912733
openSNP	rs121912733
23andMe	rs121912733
SNPshot	rs121912733
SNPdbe	rs121912733
MSV3d	rs121912733
GWAS Ctlg	rs121912733

Max Magnitude

0

OMIM	108740
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912733(T;T)
Alt	rs121912733(T;T)
Reference	Rs121912733(G;G)
Significance	Pathogenic
Disease	Darier disease
Variation	info
Gene	ATP2A2
CLNDBN	Darier disease, acral hemorrhagic type
Reversed	0
HGVS	NC_000012.11:g.110765530G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019371.27,