rs137852296

Orientation

minus

Stabilized

minus

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

Make rs137852296(C;C)

Make rs137852296(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

9759390

Gene

GPR143

is a	snp
is	mentioned by
dbSNP	rs137852296
dbSNP (classic)	rs137852296
ClinGen	rs137852296
ebi	rs137852296
HLI	rs137852296
Exac	rs137852296
Gnomad	rs137852296
Varsome	rs137852296
LitVar	rs137852296
Map	rs137852296
PheGenI	rs137852296
Biobank	rs137852296
1000 genomes	rs137852296
hgdp	rs137852296
ensembl	rs137852296
geneview	rs137852296
scholar	rs137852296
google	rs137852296
pharmgkb	rs137852296
gwascentral	rs137852296
openSNP	rs137852296
23andMe	rs137852296
SNPshot	rs137852296
SNPdbe	rs137852296
MSV3d	rs137852296
GWAS Ctlg	rs137852296

Max Magnitude

0

OMIM	300808
Desc
Variant	0003
Related	also

OMIM	300808
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852296(A;A) rs137852296(C;C)
Alt	rs137852296(A;A) rs137852296(C;C)
Reference	Rs137852296(T;T)
Significance	Pathogenic
Disease	Ocular albinism not provided
Variation	info
Gene	GPR143
CLNDBN	Ocular albinism, type I not provided
Reversed	1
HGVS	NC_000023.10:g.9727430A>G; NC_000023.10:g.9727430A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011262.7, RCV000084931.1, RCV000011265.4, RCV000084930.1,