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rs1057517436

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs1057517436(-;-)
Make rs1057517436(-;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position80173087
GeneFAH
is asnp
is mentioned by
dbSNPrs1057517436
dbSNP (old)rs1057517436
ClinGenrs1057517436
ebirs1057517436
HLIrs1057517436
Exacrs1057517436
Gnomadrs1057517436
Varsomers1057517436
LitVarrs1057517436
Maprs1057517436
PheGenIrs1057517436
Biobankrs1057517436
1000 genomesrs1057517436
hgdprs1057517436
ensemblrs1057517436
gopubmedrs1057517436
geneviewrs1057517436
scholarrs1057517436
googlers1057517436
pharmgkbrs1057517436
gwascentralrs1057517436
openSNPrs1057517436
23andMers1057517436
23andMe allrs1057517436
SNPshotrs1057517436
SNPdbers1057517436
MSV3drs1057517436
GWAS Ctlgrs1057517436
Max Magnitude0
ClinVar
Risk rs1057517436(-;-)
Alt rs1057517436(-;-)
Reference Rs1057517436(TC;TC)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80465429_80465430delTC
CLNSRC
CLNACC RCV000411340.1,