rs121912734

Orientation

plus

Stabilized

plus

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

Make rs121912734(C;C)

Make rs121912734(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

110339638

Gene

ATP2A2

is a	snp
is	mentioned by
dbSNP	rs121912734
dbSNP (classic)	rs121912734
ClinGen	rs121912734
ebi	rs121912734
HLI	rs121912734
Exac	rs121912734
Gnomad	rs121912734
Varsome	rs121912734
LitVar	rs121912734
Map	rs121912734
PheGenI	rs121912734
Biobank	rs121912734
1000 genomes	rs121912734
hgdp	rs121912734
ensembl	rs121912734
geneview	rs121912734
scholar	rs121912734
google	rs121912734
pharmgkb	rs121912734
gwascentral	rs121912734
openSNP	rs121912734
23andMe	rs121912734
SNPshot	rs121912734
SNPdbe	rs121912734
MSV3d	rs121912734
GWAS Ctlg	rs121912734

Max Magnitude

0

OMIM	108740
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912734(C;C)
Alt	rs121912734(C;C)
Reference	Rs121912734(T;T)
Significance	Pathogenic
Disease	Keratosis follicularis
Variation	info
Gene	ATP2A2
CLNDBN	Keratosis follicularis
Reversed	0
HGVS	NC_000012.11:g.110777443T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019372.23,