rs28940880

Orientation

plus

Stabilized

plus

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

Make rs28940880(A;A)

Make rs28940880(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

89178569

Gene	LOC107984363, TYR

is a	snp
is	mentioned by
dbSNP	rs28940880
dbSNP (classic)	rs28940880
ClinGen	rs28940880
ebi	rs28940880
HLI	rs28940880
Exac	rs28940880
Gnomad	rs28940880
Varsome	rs28940880
LitVar	rs28940880
Map	rs28940880
PheGenI	rs28940880
Biobank	rs28940880
1000 genomes	rs28940880
hgdp	rs28940880
ensembl	rs28940880
geneview	rs28940880
scholar	rs28940880
google	rs28940880
pharmgkb	rs28940880
gwascentral	rs28940880
openSNP	rs28940880
23andMe	rs28940880
SNPshot	rs28940880
SNPdbe	rs28940880
MSV3d	rs28940880
GWAS Ctlg	rs28940880

Max Magnitude

0

OMIM	606933
Desc	ALBINISM, OCULOCUTANEOUS, TYPE IA
Variant	0021
Related	also

ClinVar
Risk	rs28940880(A;A)
Alt	rs28940880(A;A)
Reference	Rs28940880(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.88911737G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003994.2, RCV000085958.1,