Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516934(A;A)
Make rs1057516934(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position80153056
GeneFAH
is asnp
is mentioned by
dbSNPrs1057516934
dbSNP (old)rs1057516934
ClinGenrs1057516934
ebirs1057516934
HLIrs1057516934
Exacrs1057516934
Gnomadrs1057516934
Varsomers1057516934
Maprs1057516934
PheGenIrs1057516934
Biobankrs1057516934
1000 genomesrs1057516934
hgdprs1057516934
ensemblrs1057516934
gopubmedrs1057516934
geneviewrs1057516934
scholarrs1057516934
googlers1057516934
pharmgkbrs1057516934
gwascentralrs1057516934
openSNPrs1057516934
23andMers1057516934
23andMe allrs1057516934
SNPshotrs1057516934
SNPdbers1057516934
MSV3drs1057516934
GWAS Ctlgrs1057516934
Max Magnitude0
ClinVar
Risk rs1057516934(A;A)
Alt rs1057516934(A;A)
Reference Rs1057516934(T;T)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80445398T>A
CLNSRC
CLNACC RCV000412267.1,