rs28940876

Orientation

plus

Stabilized

plus

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

Make rs28940876(C;T)

Make rs28940876(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

89178195

Gene	LOC107984363, TYR

is a	snp
is	mentioned by
dbSNP	rs28940876
dbSNP (classic)	rs28940876
ClinGen	rs28940876
ebi	rs28940876
HLI	rs28940876
Exac	rs28940876
Gnomad	rs28940876
Varsome	rs28940876
LitVar	rs28940876
Map	rs28940876
PheGenI	rs28940876
Biobank	rs28940876
1000 genomes	rs28940876
hgdp	rs28940876
ensembl	rs28940876
geneview	rs28940876
scholar	rs28940876
google	rs28940876
pharmgkb	rs28940876
gwascentral	rs28940876
openSNP	rs28940876
23andMe	rs28940876
SNPshot	rs28940876
SNPdbe	rs28940876
MSV3d	rs28940876
GWAS Ctlg	rs28940876

Max Magnitude

0

OMIM	606933
Desc	ALBINISM, OCULOCUTANEOUS, TYPE IA
Variant	0002
Related	also

ClinVar
Risk	rs28940876(T;T)
Alt	rs28940876(T;T)
Reference	Rs28940876(C;C)
Significance	Pathogenic
Disease	Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism type 1B not provided
Variation	info
Gene	TYR
CLNDBN	Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism type 1B not provided
Reversed	0
HGVS	NC_000011.9:g.88911363C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003970.5, RCV000003971.2, RCV000085939.1,