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rs772895065

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs772895065(C;C)
Make rs772895065(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position80153137
GeneFAH
is asnp
is mentioned by
dbSNPrs772895065
dbSNP (classic)rs772895065
ClinGenrs772895065
ebirs772895065
HLIrs772895065
Exacrs772895065
Gnomadrs772895065
Varsomers772895065
LitVarrs772895065
Maprs772895065
PheGenIrs772895065
Biobankrs772895065
1000 genomesrs772895065
hgdprs772895065
ensemblrs772895065
geneviewrs772895065
scholarrs772895065
googlers772895065
pharmgkbrs772895065
gwascentralrs772895065
openSNPrs772895065
23andMers772895065
SNPshotrs772895065
SNPdbers772895065
MSV3drs772895065
GWAS Ctlgrs772895065
Max Magnitude0
ClinVar
Risk rs772895065(A;A) rs772895065(C;C)
Alt rs772895065(A;A) rs772895065(C;C)
Reference Rs772895065(T;T)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80445479T>A; NC_000015.9:g.80445479T>C
CLNSRC
CLNACC RCV000454161.1, RCV000409344.1,