rs104894314

Orientation

plus

Stabilized

plus

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

Make rs104894314(G;T)

Make rs104894314(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

89191205

Gene	LOC107984363, TYR

is a	snp
is	mentioned by
dbSNP	rs104894314
dbSNP (classic)	rs104894314
ClinGen	rs104894314
ebi	rs104894314
HLI	rs104894314
Exac	rs104894314
Gnomad	rs104894314
Varsome	rs104894314
LitVar	rs104894314
Map	rs104894314
PheGenI	rs104894314
Biobank	rs104894314
1000 genomes	rs104894314
hgdp	rs104894314
ensembl	rs104894314
geneview	rs104894314
scholar	rs104894314
google	rs104894314
pharmgkb	rs104894314
gwascentral	rs104894314
openSNP	rs104894314
23andMe	rs104894314
SNPshot	rs104894314
SNPdbe	rs104894314
MSV3d	rs104894314
GWAS Ctlg	rs104894314

GMAF

0.0004591

Max Magnitude

0

OMIM	606933
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894314(T;T)
Alt	rs104894314(T;T)
Reference	Rs104894314(G;G)
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.88924373G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003972.2, RCV000085973.2, RCV000192471.2,