rs28940879

Orientation

plus

Stabilized

plus

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

Make rs28940879(A;A)

Make rs28940879(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

89178117

Gene	LOC107984363, TYR

is a	snp
is	mentioned by
dbSNP	rs28940879
dbSNP (classic)	rs28940879
ClinGen	rs28940879
ebi	rs28940879
HLI	rs28940879
Exac	rs28940879
Gnomad	rs28940879
Varsome	rs28940879
LitVar	rs28940879
Map	rs28940879
PheGenI	rs28940879
Biobank	rs28940879
1000 genomes	rs28940879
hgdp	rs28940879
ensembl	rs28940879
geneview	rs28940879
scholar	rs28940879
google	rs28940879
pharmgkb	rs28940879
gwascentral	rs28940879
openSNP	rs28940879
23andMe	rs28940879
SNPshot	rs28940879
SNPdbe	rs28940879
MSV3d	rs28940879
GWAS Ctlg	rs28940879

GMAF

0.0004591

Max Magnitude

0

OMIM	606933
Desc	ALBINISM, OCULOCUTANEOUS, TYPE IA
Variant	0020
Related	also

ClinVar
Risk	rs28940879(A;A) rs28940879(C;C)
Alt	rs28940879(A;A) rs28940879(C;C)
Reference	Rs28940879(G;G)
Significance	Pathogenic
Disease	Tyrosinase-negative oculocutaneous albinism not provided
Variation	info
Gene	TYR
CLNDBN	Tyrosinase-negative oculocutaneous albinism not provided
Reversed	0
HGVS	NC_000011.9:g.88911285G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003993.2, RCV000085930.1,