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rs1057516333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516333(A;A)
Make rs1057516333(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position80186129
GeneFAH
is asnp
is mentioned by
dbSNPrs1057516333
dbSNP (old)rs1057516333
ClinGenrs1057516333
ebirs1057516333
HLIrs1057516333
Exacrs1057516333
Gnomadrs1057516333
Varsomers1057516333
Maprs1057516333
PheGenIrs1057516333
Biobankrs1057516333
1000 genomesrs1057516333
hgdprs1057516333
ensemblrs1057516333
gopubmedrs1057516333
geneviewrs1057516333
scholarrs1057516333
googlers1057516333
pharmgkbrs1057516333
gwascentralrs1057516333
openSNPrs1057516333
23andMers1057516333
23andMe allrs1057516333
SNPshotrs1057516333
SNPdbers1057516333
MSV3drs1057516333
GWAS Ctlgrs1057516333
Max Magnitude0
ClinVar
Risk rs1057516333(A;A)
Alt rs1057516333(A;A)
Reference Rs1057516333(G;G)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80478471G>A
CLNSRC
CLNACC RCV000411156.1,