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rs1057517341

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517341(-;-)
Make rs1057517341(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position80153068
GeneFAH
is asnp
is mentioned by
dbSNPrs1057517341
dbSNP (old)rs1057517341
ClinGenrs1057517341
ebirs1057517341
HLIrs1057517341
Exacrs1057517341
Gnomadrs1057517341
Varsomers1057517341
Maprs1057517341
PheGenIrs1057517341
Biobankrs1057517341
1000 genomesrs1057517341
hgdprs1057517341
ensemblrs1057517341
gopubmedrs1057517341
geneviewrs1057517341
scholarrs1057517341
googlers1057517341
pharmgkbrs1057517341
gwascentralrs1057517341
openSNPrs1057517341
23andMers1057517341
23andMe allrs1057517341
SNPshotrs1057517341
SNPdbers1057517341
MSV3drs1057517341
GWAS Ctlgrs1057517341
Max Magnitude0
ClinVar
Risk rs1057517341(-;-)
Alt rs1057517341(-;-)
Reference Rs1057517341(C;C)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80445410delC
CLNSRC
CLNACC RCV000410365.1,