rs104894313

Orientation

plus

Stabilized

plus

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

Make rs104894313(C;T)

Make rs104894313(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

89284805

Gene	LOC107984363, TYR

is a	snp
is	mentioned by
dbSNP	rs104894313
dbSNP (classic)	rs104894313
ClinGen	rs104894313
ebi	rs104894313
HLI	rs104894313
Exac	rs104894313
Gnomad	rs104894313
Varsome	rs104894313
LitVar	rs104894313
Map	rs104894313
PheGenI	rs104894313
Biobank	rs104894313
1000 genomes	rs104894313
hgdp	rs104894313
ensembl	rs104894313
geneview	rs104894313
scholar	rs104894313
google	rs104894313
pharmgkb	rs104894313
gwascentral	rs104894313
openSNP	rs104894313
23andMe	rs104894313
SNPshot	rs104894313
SNPdbe	rs104894313
MSV3d	rs104894313
GWAS Ctlg	rs104894313

Max Magnitude

0

OMIM	606933
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894313(T;T)
Alt	rs104894313(T;T)
Reference	Rs104894313(C;C)
Significance	Pathogenic
Disease	Oculocutaneous albinism type 1B not provided Oculocutaneous albinism
Variation	info
Gene	TYR
CLNDBN	Oculocutaneous albinism type 1B not provided Oculocutaneous albinism
Reversed	0
HGVS	NC_000011.9:g.89017973C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003976.2, RCV000085913.1, RCV000400442.1,