rs28940881

Orientation

plus

Stabilized

plus

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

Make rs28940881(A;G)

Make rs28940881(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

89177954

Gene	LOC107984363, TYR

is a	snp
is	mentioned by
dbSNP	rs28940881
dbSNP (classic)	rs28940881
ClinGen	rs28940881
ebi	rs28940881
HLI	rs28940881
Exac	rs28940881
Gnomad	rs28940881
Varsome	rs28940881
LitVar	rs28940881
Map	rs28940881
PheGenI	rs28940881
Biobank	rs28940881
1000 genomes	rs28940881
hgdp	rs28940881
ensembl	rs28940881
geneview	rs28940881
scholar	rs28940881
google	rs28940881
pharmgkb	rs28940881
gwascentral	rs28940881
openSNP	rs28940881
23andMe	rs28940881
SNPshot	rs28940881
SNPdbe	rs28940881
MSV3d	rs28940881
GWAS Ctlg	rs28940881

Max Magnitude

0

OMIM	606933
Desc	ALBINISM, OCULAR, AUTOSOMAL RECESSIVE
Variant	0037
Related	also

ClinVar
Risk	rs28940881(G;G)
Alt	rs28940881(G;G)
Reference	Rs28940881(A;A)
Significance	Pathogenic
Disease	Oculocutaneous albinism type 1B not provided Tyrosinase-negative oculocutaneous albinism
Variation	info
Gene	TYR
CLNDBN	Oculocutaneous albinism type 1B not provided Tyrosinase-negative oculocutaneous albinism
Reversed	0
HGVS	NC_000011.9:g.88911122A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004011.2, RCV000085931.1, RCV000193173.1,