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rs781496816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs781496816(C;T)
Make rs781496816(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position80168116
GeneFAH
is asnp
is mentioned by
dbSNPrs781496816
dbSNP (classic)rs781496816
ClinGenrs781496816
ebirs781496816
HLIrs781496816
Exacrs781496816
Gnomadrs781496816
Varsomers781496816
LitVarrs781496816
Maprs781496816
PheGenIrs781496816
Biobankrs781496816
1000 genomesrs781496816
hgdprs781496816
ensemblrs781496816
geneviewrs781496816
scholarrs781496816
googlers781496816
pharmgkbrs781496816
gwascentralrs781496816
openSNPrs781496816
23andMers781496816
SNPshotrs781496816
SNPdbers781496816
MSV3drs781496816
GWAS Ctlgrs781496816
Max Magnitude0
ClinVar
Risk rs781496816(T;T)
Alt rs781496816(T;T)
Reference Rs781496816(C;C)
Significance Pathogenic
Disease Tyrosinemia type I not provided
Variation info
Gene FAH
CLNDBN Tyrosinemia type I not provided
Reversed 0
HGVS NC_000015.9:g.80460458C>T
CLNSRC
CLNACC RCV000169065.1, RCV000413278.1,