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rs1057516408

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516408(A;A)
Make rs1057516408(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position80159878
GeneFAH
is asnp
is mentioned by
dbSNPrs1057516408
dbSNP (classic)rs1057516408
ClinGenrs1057516408
ebirs1057516408
HLIrs1057516408
Exacrs1057516408
Gnomadrs1057516408
Varsomers1057516408
LitVarrs1057516408
Maprs1057516408
PheGenIrs1057516408
Biobankrs1057516408
1000 genomesrs1057516408
hgdprs1057516408
ensemblrs1057516408
geneviewrs1057516408
scholarrs1057516408
googlers1057516408
pharmgkbrs1057516408
gwascentralrs1057516408
openSNPrs1057516408
23andMers1057516408
23andMe allrs1057516408
SNPshotrs1057516408
SNPdbers1057516408
MSV3drs1057516408
GWAS Ctlgrs1057516408
Max Magnitude0
ClinVar
Risk rs1057516408(A;A)
Alt rs1057516408(A;A)
Reference Rs1057516408(G;G)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80452220G>A
CLNSRC
CLNACC RCV000410626.1,