rs28940877

Orientation

plus

Stabilized

plus

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

Make rs28940877(C;C)

Make rs28940877(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

89178218

Gene	LOC107984363, TYR

is a	snp
is	mentioned by
dbSNP	rs28940877
dbSNP (classic)	rs28940877
ClinGen	rs28940877
ebi	rs28940877
HLI	rs28940877
Exac	rs28940877
Gnomad	rs28940877
Varsome	rs28940877
LitVar	rs28940877
Map	rs28940877
PheGenI	rs28940877
Biobank	rs28940877
1000 genomes	rs28940877
hgdp	rs28940877
ensembl	rs28940877
geneview	rs28940877
scholar	rs28940877
google	rs28940877
pharmgkb	rs28940877
gwascentral	rs28940877
openSNP	rs28940877
23andMe	rs28940877
SNPshot	rs28940877
SNPdbe	rs28940877
MSV3d	rs28940877
GWAS Ctlg	rs28940877

Max Magnitude

0

OMIM	606933
Desc	ALBINISM, OCULOCUTANEOUS, TYPE IA
Variant	0011
Related	also

ClinVar
Risk	rs28940877(C;C)
Alt	rs28940877(C;C)
Reference	Rs28940877(T;T)
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.88911386T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003984.2, RCV000085941.1,