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rs781496816

From SNPedia

Orientationplus
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
ebirs781496816
HLIrs781496816
Exacrs781496816
Varsomers781496816
Maprs781496816
PheGenIrs781496816
hapmaprs781496816
1000 genomesrs781496816
hgdprs781496816
ensemblrs781496816
gopubmedrs781496816
geneviewrs781496816
scholarrs781496816
googlers781496816
pharmgkbrs781496816
gwascentralrs781496816
openSNPrs781496816
23andMers781496816
23andMe allrs781496816
SNP Nexus

SNPshotrs781496816
SNPdbers781496816
MSV3drs781496816
GWAS Ctlgrs781496816
Max Magnitude0
ClinVar
Risk rs781496816(T;T)
Alt rs781496816(T;T)
Reference rs781496816(C;C)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80460458C>T
CLNSRC
CLNACC RCV000169065.1,