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rs104894314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894314(G;T)
Make rs104894314(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position89191205
GeneTYR
is asnp
is mentioned by
dbSNPrs104894314
ebirs104894314
HLIrs104894314
Exacrs104894314
Varsomers104894314
Maprs104894314
PheGenIrs104894314
hapmaprs104894314
1000 genomesrs104894314
hgdprs104894314
ensemblrs104894314
gopubmedrs104894314
geneviewrs104894314
scholarrs104894314
googlers104894314
pharmgkbrs104894314
gwascentralrs104894314
openSNPrs104894314
23andMers104894314
23andMe allrs104894314
SNP Nexus

SNPshotrs104894314
SNPdbers104894314
MSV3drs104894314
GWAS Ctlgrs104894314
GMAF0.0004591
Max Magnitude0
OMIM606933
Desc
Variant0007
Relatedalso
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
CLNACC RCV000003972.1, RCV000085973.1, RCV000192471.1,