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rs28940879

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28940879(A;A)
Make rs28940879(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178117
GeneTYR
is asnp
is mentioned by
dbSNPrs28940879
ebirs28940879
HLIrs28940879
Exacrs28940879
Varsomers28940879
Maprs28940879
PheGenIrs28940879
hapmaprs28940879
1000 genomesrs28940879
hgdprs28940879
ensemblrs28940879
gopubmedrs28940879
geneviewrs28940879
scholarrs28940879
googlers28940879
pharmgkbrs28940879
gwascentralrs28940879
openSNPrs28940879
23andMers28940879
23andMe allrs28940879
SNP Nexus

SNPshotrs28940879
SNPdbers28940879
MSV3drs28940879
GWAS Ctlgrs28940879
GMAF0.0004591
Max Magnitude0
OMIM606933
DescALBINISM, OCULOCUTANEOUS, TYPE IA
Variant0020
Relatedalso
Neighborrs28940878
Distance39
Neighborrs28940876
Distance78


ClinVar
Risk rs28940879(A,C;A,C)
Alt rs28940879(A,C;A,C)
Reference rs28940879(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.88911285G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003993.2, RCV000085930.1,