rs185504549

Orientation

plus

Stabilized

plus

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

Make rs185504549(A;A)

Make rs185504549(A;C)

Reference

GRCh38.p2 38.2/147

Chromosome

15

Position

28014775

Gene

OCA2

is a	snp
is	mentioned by
dbSNP	rs185504549
dbSNP (classic)	rs185504549
ClinGen	rs185504549
ebi	rs185504549
HLI	rs185504549
Exac	rs185504549
Gnomad	rs185504549
Varsome	rs185504549
LitVar	rs185504549
Map	rs185504549
PheGenI	rs185504549
Biobank	rs185504549
1000 genomes	rs185504549
hgdp	rs185504549
ensembl	rs185504549
geneview	rs185504549
scholar	rs185504549
google	rs185504549
pharmgkb	rs185504549
gwascentral	rs185504549
openSNP	rs185504549
23andMe	rs185504549
SNPshot	rs185504549
SNPdbe	rs185504549
MSV3d	rs185504549
GWAS Ctlg	rs185504549

Max Magnitude

0

ClinVar
Risk	rs185504549(A;A)
Alt	rs185504549(A;A)
Reference	Rs185504549(C;C)
Significance	Pathogenic
Disease	Tyrosinase-positive oculocutaneous albinism
Variation	info
Gene	OCA2
CLNDBN	Tyrosinase-positive oculocutaneous albinism
Reversed	0
HGVS	NC_000015.9:g.28259921C>A
CLNSRC
CLNACC	RCV000234803.1,