rs28929478

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common on affy axiom data
(G;G)	0	common in clinvar

Make rs28929478(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

110281857

Gene

ATP2A2

is a	snp
is	mentioned by
dbSNP	rs28929478
dbSNP (classic)	rs28929478
ClinGen	rs28929478
ebi	rs28929478
HLI	rs28929478
Exac	rs28929478
Gnomad	rs28929478
Varsome	rs28929478
LitVar	rs28929478
Map	rs28929478
PheGenI	rs28929478
Biobank	rs28929478
1000 genomes	rs28929478
hgdp	rs28929478
ensembl	rs28929478
geneview	rs28929478
scholar	rs28929478
google	rs28929478
pharmgkb	rs28929478
gwascentral	rs28929478
openSNP	rs28929478
23andMe	rs28929478
SNPshot	rs28929478
SNPdbe	rs28929478
MSV3d	rs28929478
GWAS Ctlg	rs28929478

Max Magnitude

0

OMIM	108740
Desc	DARIER DISEASE
Variant	0001
Related	also

ClinVar
Risk	Rs28929478(A;A)
Alt	Rs28929478(A;A)
Reference	Rs28929478(G;G)
Significance	Pathogenic
Disease	Keratosis follicularis not provided
Variation	info
Gene	ATP2A2
CLNDBN	Keratosis follicularis not provided
Reversed	0
HGVS	NC_000012.11:g.110719662G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019367.28, RCV000414388.1,