rs121918166

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of an oculocutaneous Albinism Type II mutation
(G;G)	0	common in clinvar

Make rs121918166(A;A)

Reference

GRCh38 38.1/142

Chromosome

15

Position

27985101

Gene

OCA2

is a	snp
is	mentioned by
dbSNP	rs121918166
dbSNP (classic)	rs121918166
ClinGen	rs121918166
ebi	rs121918166
HLI	rs121918166
Exac	rs121918166
Gnomad	rs121918166
Varsome	rs121918166
LitVar	rs121918166
Map	rs121918166
PheGenI	rs121918166
Biobank	rs121918166
1000 genomes	rs121918166
hgdp	rs121918166
ensembl	rs121918166
geneview	rs121918166
scholar	rs121918166
google	rs121918166
pharmgkb	rs121918166
gwascentral	rs121918166
openSNP	rs121918166
23andMe	rs121918166
SNPshot	rs121918166
SNPdbe	rs121918166
MSV3d	rs121918166
GWAS Ctlg	rs121918166

Merged from

Rs28934272

GMAF

0.001837

Max Magnitude

3

OMIM	611409
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918166(A;A)
Alt	rs121918166(A;A)
Reference	Rs121918166(G;G)
Significance	Pathogenic
Disease	Tyrosinase-positive oculocutaneous albinism Oculocutaneous albinism not provided Skin/hair/eye pigmentation
Variation	info
Gene	OCA2
CLNDBN	Tyrosinase-positive oculocutaneous albinism Oculocutaneous albinism not provided Skin/hair/eye pigmentation, variation in, 1
Reversed	1
HGVS	NC_000015.9:g.28230247C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001006.6, RCV000286588.1, RCV000310636.1, RCV000477815.1,