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rs28940876

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940876(C;T)
Make rs28940876(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178195
GeneTYR
is asnp
is mentioned by
dbSNPrs28940876
ebirs28940876
HLIrs28940876
Exacrs28940876
Varsomers28940876
Maprs28940876
PheGenIrs28940876
hapmaprs28940876
1000 genomesrs28940876
hgdprs28940876
ensemblrs28940876
gopubmedrs28940876
geneviewrs28940876
scholarrs28940876
googlers28940876
pharmgkbrs28940876
gwascentralrs28940876
openSNPrs28940876
23andMers28940876
23andMe allrs28940876
SNP Nexus

SNPshotrs28940876
SNPdbers28940876
MSV3drs28940876
GWAS Ctlgrs28940876
Max Magnitude0
OMIM606933
DescALBINISM, OCULOCUTANEOUS, TYPE IA
Variant0002
Relatedalso
Neighborrs28940879
Distance78
Neighborrs28940877
Distance23


ClinVar
Risk rs28940876(T;T)
Alt rs28940876(T;T)
Reference rs28940876(C;C)
Significance Pathogenic
Disease Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism type 1B not provided
Variation info
Gene TYR
CLNDBN Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism type 1B not provided
Reversed 0
HGVS NC_000011.9:g.88911363C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003970.5, RCV000003971.2, RCV000085939.1,