rs121918171

Orientation

minus

Stabilized

minus

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

Make rs121918171(A;A)

Make rs121918171(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

27989601

Gene

OCA2

is a	snp
is	mentioned by
dbSNP	rs121918171
dbSNP (classic)	rs121918171
ClinGen	rs121918171
ebi	rs121918171
HLI	rs121918171
Exac	rs121918171
Gnomad	rs121918171
Varsome	rs121918171
LitVar	rs121918171
Map	rs121918171
PheGenI	rs121918171
Biobank	rs121918171
1000 genomes	rs121918171
hgdp	rs121918171
ensembl	rs121918171
geneview	rs121918171
scholar	rs121918171
google	rs121918171
pharmgkb	rs121918171
gwascentral	rs121918171
openSNP	rs121918171
23andMe	rs121918171
SNPshot	rs121918171
SNPdbe	rs121918171
MSV3d	rs121918171
GWAS Ctlg	rs121918171

Max Magnitude

0

OMIM	611409
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121918171(A;A)
Alt	rs121918171(A;A)
Reference	Rs121918171(G;G)
Significance	Pathogenic
Disease	Tyrosinase-positive oculocutaneous albinism
Variation	info
Gene	OCA2
CLNDBN	Tyrosinase-positive oculocutaneous albinism
Reversed	1
HGVS	NC_000015.9:g.28234747C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001016.4,