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rs28940877

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28940877(C;C)
Make rs28940877(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178218
GeneTYR
is asnp
is mentioned by
dbSNPrs28940877
ebirs28940877
HLIrs28940877
Exacrs28940877
Varsomers28940877
Maprs28940877
PheGenIrs28940877
hapmaprs28940877
1000 genomesrs28940877
hgdprs28940877
ensemblrs28940877
gopubmedrs28940877
geneviewrs28940877
scholarrs28940877
googlers28940877
pharmgkbrs28940877
gwascentralrs28940877
openSNPrs28940877
23andMers28940877
23andMe allrs28940877
SNP Nexus

SNPshotrs28940877
SNPdbers28940877
MSV3drs28940877
GWAS Ctlgrs28940877
Max Magnitude0
OMIM606933
DescALBINISM, OCULOCUTANEOUS, TYPE IA
Variant0011
Relatedalso
Neighborrs28940876
Distance23
Neighborrs1042602
Distance310


ClinVar
Risk rs28940877(C;C)
Alt rs28940877(C;C)
Reference rs28940877(T;T)
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.88911386T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003984.2, RCV000085941.1,