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rs151206295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151206295(C;T)
Make rs151206295(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position89227850
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs151206295
dbSNP (classic)rs151206295
ClinGenrs151206295
ebirs151206295
HLIrs151206295
Exacrs151206295
Gnomadrs151206295
Varsomers151206295
LitVarrs151206295
Maprs151206295
PheGenIrs151206295
Biobankrs151206295
1000 genomesrs151206295
hgdprs151206295
ensemblrs151206295
geneviewrs151206295
scholarrs151206295
googlers151206295
pharmgkbrs151206295
gwascentralrs151206295
openSNPrs151206295
23andMers151206295
SNPshotrs151206295
SNPdbers151206295
MSV3drs151206295
GWAS Ctlgrs151206295
Max Magnitude0
ClinVar
Risk rs151206295(G;G) rs151206295(T;T)
Alt rs151206295(G;G) rs151206295(T;T)
Reference Rs151206295(C;C)
Significance Pathogenic
Disease Tyrosinase-negative oculocutaneous albinism
Variation info
Gene TYR
CLNDBN Tyrosinase-negative oculocutaneous albinism
Reversed 0
HGVS NC_000011.9:g.88961018C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000195157.1,