Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057517201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517201(A;A)
Make rs1057517201(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position80177584
GeneFAH
is asnp
is mentioned by
dbSNPrs1057517201
dbSNP (old)rs1057517201
ClinGenrs1057517201
ebirs1057517201
HLIrs1057517201
Exacrs1057517201
Gnomadrs1057517201
Varsomers1057517201
Maprs1057517201
PheGenIrs1057517201
Biobankrs1057517201
1000 genomesrs1057517201
hgdprs1057517201
ensemblrs1057517201
gopubmedrs1057517201
geneviewrs1057517201
scholarrs1057517201
googlers1057517201
pharmgkbrs1057517201
gwascentralrs1057517201
openSNPrs1057517201
23andMers1057517201
23andMe allrs1057517201
SNPshotrs1057517201
SNPdbers1057517201
MSV3drs1057517201
GWAS Ctlgrs1057517201
Max Magnitude0
ClinVar
Risk rs1057517201(A;A)
Alt rs1057517201(A;A)
Reference Rs1057517201(G;G)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80469926G>A
CLNSRC
CLNACC RCV000409775.1,