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rs28940881

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28940881(A;G)
Make rs28940881(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89177954
GeneTYR
is asnp
is mentioned by
dbSNPrs28940881
ebirs28940881
HLIrs28940881
Exacrs28940881
Varsomers28940881
Maprs28940881
PheGenIrs28940881
hapmaprs28940881
1000 genomesrs28940881
hgdprs28940881
ensemblrs28940881
gopubmedrs28940881
geneviewrs28940881
scholarrs28940881
googlers28940881
pharmgkbrs28940881
gwascentralrs28940881
openSNPrs28940881
23andMers28940881
23andMe allrs28940881
SNP Nexus

SNPshotrs28940881
SNPdbers28940881
MSV3drs28940881
GWAS Ctlgrs28940881
Max Magnitude0
OMIM606933
DescALBINISM, OCULAR, AUTOSOMAL RECESSIVE
Variant0037
Relatedalso
Neighborrs28940878
Distance124


ClinVar
Risk rs28940881(G;G)
Alt rs28940881(G;G)
Reference rs28940881(A;A)
Significance Pathogenic
Disease Oculocutaneous albinism type 1B not provided Tyrosinase-negative oculocutaneous albinism
Variation info
Gene TYR
CLNDBN Oculocutaneous albinism type 1B not provided Tyrosinase-negative oculocutaneous albinism
Reversed 0
HGVS NC_000011.9:g.88911122A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004011.2, RCV000085931.1, RCV000193173.1,