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rs1057516368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516368(-;-)
Make rs1057516368(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position80173051
GeneFAH
is asnp
is mentioned by
dbSNPrs1057516368
dbSNP (old)rs1057516368
ClinGenrs1057516368
ebirs1057516368
HLIrs1057516368
Exacrs1057516368
Gnomadrs1057516368
Varsomers1057516368
Maprs1057516368
PheGenIrs1057516368
Biobankrs1057516368
1000 genomesrs1057516368
hgdprs1057516368
ensemblrs1057516368
gopubmedrs1057516368
geneviewrs1057516368
scholarrs1057516368
googlers1057516368
pharmgkbrs1057516368
gwascentralrs1057516368
openSNPrs1057516368
23andMers1057516368
23andMe allrs1057516368
SNPshotrs1057516368
SNPdbers1057516368
MSV3drs1057516368
GWAS Ctlgrs1057516368
Max Magnitude0
ClinVar
Risk rs1057516368(-;-)
Alt rs1057516368(-;-)
Reference Rs1057516368(G;G)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80465393delG
CLNSRC
CLNACC RCV000409787.1,