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rs28940878

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28940878(A;G)
Make rs28940878(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178078
GeneTYR
is asnp
is mentioned by
dbSNPrs28940878
ebirs28940878
HLIrs28940878
Exacrs28940878
Varsomers28940878
Maprs28940878
PheGenIrs28940878
hapmaprs28940878
1000 genomesrs28940878
hgdprs28940878
ensemblrs28940878
gopubmedrs28940878
geneviewrs28940878
scholarrs28940878
googlers28940878
pharmgkbrs28940878
gwascentralrs28940878
openSNPrs28940878
23andMers28940878
23andMe allrs28940878
SNP Nexus

SNPshotrs28940878
SNPdbers28940878
MSV3drs28940878
GWAS Ctlgrs28940878
Max Magnitude0
OMIM606933
DescALBINISM, OCULOCUTANEOUS, TYPE IA
Variant0019
Relatedalso
Neighborrs28940881
Distance124
Neighborrs28940879
Distance39


ClinVar
Risk rs28940878(G;G)
Alt rs28940878(G;G)
Reference rs28940878(A;A)
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.88911246A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003992.2, RCV000085915.1,