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rs28940880

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28940880(A;A)
Make rs28940880(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178569
GeneTYR
is asnp
is mentioned by
dbSNPrs28940880
ebirs28940880
HLIrs28940880
Exacrs28940880
Varsomers28940880
Maprs28940880
PheGenIrs28940880
hapmaprs28940880
1000 genomesrs28940880
hgdprs28940880
ensemblrs28940880
gopubmedrs28940880
geneviewrs28940880
scholarrs28940880
googlers28940880
pharmgkbrs28940880
gwascentralrs28940880
openSNPrs28940880
23andMers28940880
23andMe allrs28940880
SNP Nexus

SNPshotrs28940880
SNPdbers28940880
MSV3drs28940880
GWAS Ctlgrs28940880
Max Magnitude0
OMIM606933
DescALBINISM, OCULOCUTANEOUS, TYPE IA
Variant0021
Relatedalso
Neighborrs1042602
Distance41


ClinVar
Risk rs28940880(A;A)
Alt rs28940880(A;A)
Reference rs28940880(G;G)
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.88911737G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003994.2, RCV000085958.1,