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rs1057517113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517113(-;-)
Make rs1057517113(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position80168088
GeneFAH
is asnp
is mentioned by
dbSNPrs1057517113
dbSNP (classic)rs1057517113
ClinGenrs1057517113
ebirs1057517113
HLIrs1057517113
Exacrs1057517113
Gnomadrs1057517113
Varsomers1057517113
LitVarrs1057517113
Maprs1057517113
PheGenIrs1057517113
Biobankrs1057517113
1000 genomesrs1057517113
hgdprs1057517113
ensemblrs1057517113
geneviewrs1057517113
scholarrs1057517113
googlers1057517113
pharmgkbrs1057517113
gwascentralrs1057517113
openSNPrs1057517113
23andMers1057517113
23andMe allrs1057517113
SNPshotrs1057517113
SNPdbers1057517113
MSV3drs1057517113
GWAS Ctlgrs1057517113
Max Magnitude0
ClinVar
Risk rs1057517113(-;-)
Alt rs1057517113(-;-)
Reference Rs1057517113(C;C)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80460430delC
CLNSRC
CLNACC RCV000409803.1,