rs74653330

Orientation

minus

Stabilized

minus

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

Make rs74653330(A;A)

Make rs74653330(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

27983407

Gene

OCA2

is a	snp
is	mentioned by
dbSNP	rs74653330
dbSNP (classic)	rs74653330
ClinGen	rs74653330
ebi	rs74653330
HLI	rs74653330
Exac	rs74653330
Gnomad	rs74653330
Varsome	rs74653330
LitVar	rs74653330
Map	rs74653330
PheGenI	rs74653330
Biobank	rs74653330
1000 genomes	rs74653330
hgdp	rs74653330
ensembl	rs74653330
geneview	rs74653330
scholar	rs74653330
google	rs74653330
pharmgkb	rs74653330
gwascentral	rs74653330
openSNP	rs74653330
23andMe	rs74653330
SNPshot	rs74653330
SNPdbe	rs74653330
MSV3d	rs74653330
GWAS Ctlg	rs74653330

GMAF

0.01515

Max Magnitude

0

OMIM	611409
Desc
Variant	0003
Related	also

ClinVar
Risk	rs74653330(A;A)
Alt	rs74653330(A;A)
Reference	Rs74653330(G;G)
Significance	Pathogenic
Disease	Tyrosinase-positive oculocutaneous albinism not specified not provided
Variation	info
Gene	OCA2
CLNDBN	Tyrosinase-positive oculocutaneous albinism not specified not provided
Reversed	1
HGVS	NC_000015.9:g.28228553C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001005.3, RCV000251919.1, RCV000487934.1,