rs121918169

Orientation

minus

Stabilized

minus

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

Make rs121918169(C;C)

Make rs121918169(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

27926169

Gene

OCA2

is a	snp
is	mentioned by
dbSNP	rs121918169
dbSNP (classic)	rs121918169
ClinGen	rs121918169
ebi	rs121918169
HLI	rs121918169
Exac	rs121918169
Gnomad	rs121918169
Varsome	rs121918169
LitVar	rs121918169
Map	rs121918169
PheGenI	rs121918169
Biobank	rs121918169
1000 genomes	rs121918169
hgdp	rs121918169
ensembl	rs121918169
geneview	rs121918169
scholar	rs121918169
google	rs121918169
pharmgkb	rs121918169
gwascentral	rs121918169
openSNP	rs121918169
23andMe	rs121918169
SNPshot	rs121918169
SNPdbe	rs121918169
MSV3d	rs121918169
GWAS Ctlg	rs121918169

Max Magnitude

0

OMIM	611409
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121918169(C;C)
Alt	rs121918169(C;C)
Reference	Rs121918169(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.28171315C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001011.4,