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rs1057517084

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517084(-;-)
Make rs1057517084(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position80172157
GeneFAH
is asnp
is mentioned by
dbSNPrs1057517084
dbSNP (old)rs1057517084
ClinGenrs1057517084
ebirs1057517084
HLIrs1057517084
Exacrs1057517084
Gnomadrs1057517084
Varsomers1057517084
Maprs1057517084
PheGenIrs1057517084
Biobankrs1057517084
1000 genomesrs1057517084
hgdprs1057517084
ensemblrs1057517084
gopubmedrs1057517084
geneviewrs1057517084
scholarrs1057517084
googlers1057517084
pharmgkbrs1057517084
gwascentralrs1057517084
openSNPrs1057517084
23andMers1057517084
23andMe allrs1057517084
SNPshotrs1057517084
SNPdbers1057517084
MSV3drs1057517084
GWAS Ctlgrs1057517084
Max Magnitude0
ClinVar
Risk rs1057517084(-;-)
Alt rs1057517084(-;-)
Reference Rs1057517084(T;T)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80464499delT
CLNSRC
CLNACC RCV000409747.1,