rs121918168

Orientation

minus

Stabilized

minus

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

Make rs121918168(C;T)

Make rs121918168(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

28014819

Gene

OCA2

is a	snp
is	mentioned by
dbSNP	rs121918168
dbSNP (classic)	rs121918168
ClinGen	rs121918168
ebi	rs121918168
HLI	rs121918168
Exac	rs121918168
Gnomad	rs121918168
Varsome	rs121918168
LitVar	rs121918168
Map	rs121918168
PheGenI	rs121918168
Biobank	rs121918168
1000 genomes	rs121918168
hgdp	rs121918168
ensembl	rs121918168
geneview	rs121918168
scholar	rs121918168
google	rs121918168
pharmgkb	rs121918168
gwascentral	rs121918168
openSNP	rs121918168
23andMe	rs121918168
SNPshot	rs121918168
SNPdbe	rs121918168
MSV3d	rs121918168
GWAS Ctlg	rs121918168

Max Magnitude

0

OMIM	611409
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121918168(T;T)
Alt	rs121918168(T;T)
Reference	Rs121918168(C;C)
Significance	Pathogenic
Disease	Tyrosinase-positive oculocutaneous albinism
Variation	info
Gene	OCA2
CLNDBN	Tyrosinase-positive oculocutaneous albinism
Reversed	1
HGVS	NC_000015.9:g.28259965G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001009.4,