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rs121908011

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908011(A;A)
Make rs121908011(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89227933
GeneTYR
is asnp
is mentioned by
dbSNPrs121908011
ebirs121908011
HLIrs121908011
Exacrs121908011
Varsomers121908011
Maprs121908011
PheGenIrs121908011
hapmaprs121908011
1000 genomesrs121908011
hgdprs121908011
ensemblrs121908011
gopubmedrs121908011
geneviewrs121908011
scholarrs121908011
googlers121908011
pharmgkbrs121908011
gwascentralrs121908011
openSNPrs121908011
23andMers121908011
23andMe allrs121908011
SNP Nexus

SNPshotrs121908011
SNPdbers121908011
MSV3drs121908011
GWAS Ctlgrs121908011
Max Magnitude0
OMIM606933
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908011(A;A)
Alt rs121908011(A;A)
Reference rs121908011(G;G)
Significance Pathogenic
Disease Tyrosinase-negative oculocutaneous albinism not provided Oculocutaneous albinism type 1B
Variation info
Gene TYR
CLNDBN Tyrosinase-negative oculocutaneous albinism not provided Oculocutaneous albinism type 1B
Reversed 0
HGVS NC_000011.9:g.88961101G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003974.2, RCV000085903.1, RCV000177051.1,