rs28940878

Orientation

plus

Stabilized

plus

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

Make rs28940878(A;G)

Make rs28940878(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

89178078

Gene	LOC107984363, TYR

is a	snp
is	mentioned by
dbSNP	rs28940878
dbSNP (classic)	rs28940878
ClinGen	rs28940878
ebi	rs28940878
HLI	rs28940878
Exac	rs28940878
Gnomad	rs28940878
Varsome	rs28940878
LitVar	rs28940878
Map	rs28940878
PheGenI	rs28940878
Biobank	rs28940878
1000 genomes	rs28940878
hgdp	rs28940878
ensembl	rs28940878
geneview	rs28940878
scholar	rs28940878
google	rs28940878
pharmgkb	rs28940878
gwascentral	rs28940878
openSNP	rs28940878
23andMe	rs28940878
SNPshot	rs28940878
SNPdbe	rs28940878
MSV3d	rs28940878
GWAS Ctlg	rs28940878

Max Magnitude

0

OMIM	606933
Desc	ALBINISM, OCULOCUTANEOUS, TYPE IA
Variant	0019
Related	also

ClinVar
Risk	rs28940878(G;G)
Alt	rs28940878(G;G)
Reference	Rs28940878(A;A)
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.88911246A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003992.2, RCV000085915.1,