rs121918170

Orientation

minus

Stabilized

minus

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

Make rs121918170(A;G)

Make rs121918170(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

27983383

Gene

OCA2

is a	snp
is	mentioned by
dbSNP	rs121918170
dbSNP (classic)	rs121918170
ClinGen	rs121918170
ebi	rs121918170
HLI	rs121918170
Exac	rs121918170
Gnomad	rs121918170
Varsome	rs121918170
LitVar	rs121918170
Map	rs121918170
PheGenI	rs121918170
Biobank	rs121918170
1000 genomes	rs121918170
hgdp	rs121918170
ensembl	rs121918170
geneview	rs121918170
scholar	rs121918170
google	rs121918170
pharmgkb	rs121918170
gwascentral	rs121918170
openSNP	rs121918170
23andMe	rs121918170
SNPshot	rs121918170
SNPdbe	rs121918170
MSV3d	rs121918170
GWAS Ctlg	rs121918170

Max Magnitude

0

OMIM	611409
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121918170(G;G)
Alt	rs121918170(G;G)
Reference	Rs121918170(A;A)
Significance	Pathogenic
Disease	Tyrosinase-positive oculocutaneous albinism not provided
Variation	info
Gene	OCA2
CLNDBN	Tyrosinase-positive oculocutaneous albinism not provided
Reversed	1
HGVS	NC_000015.9:g.28228529T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001012.5, RCV000413429.1,