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rs886044640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome15
Position80180126
GeneFAH
is asnp
is mentioned by
dbSNPrs886044640
dbSNP (classic)rs886044640
ClinGenrs886044640
ebirs886044640
HLIrs886044640
Exacrs886044640
Gnomadrs886044640
Varsomers886044640
LitVarrs886044640
Maprs886044640
PheGenIrs886044640
Biobankrs886044640
1000 genomesrs886044640
hgdprs886044640
ensemblrs886044640
geneviewrs886044640
scholarrs886044640
googlers886044640
pharmgkbrs886044640
gwascentralrs886044640
openSNPrs886044640
23andMers886044640
SNPshotrs886044640
SNPdbers886044640
MSV3drs886044640
GWAS Ctlgrs886044640
Max Magnitude0
ClinVar
Risk rs886044640(A;A)
Alt rs886044640(A;A)
Reference Rs886044640(C;C)
Significance Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80472468C>A
CLNSRC
CLNACC RCV000311953.1,