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rs786204551

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204551(-;-)
Make rs786204551(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position80186139
GeneFAH
is asnp
is mentioned by
dbSNPrs786204551
dbSNP (old)rs786204551
ClinGenrs786204551
ebirs786204551
HLIrs786204551
Exacrs786204551
Gnomadrs786204551
Varsomers786204551
Maprs786204551
PheGenIrs786204551
Biobankrs786204551
1000 genomesrs786204551
hgdprs786204551
ensemblrs786204551
gopubmedrs786204551
geneviewrs786204551
scholarrs786204551
googlers786204551
pharmgkbrs786204551
gwascentralrs786204551
openSNPrs786204551
23andMers786204551
23andMe allrs786204551
SNP Nexus

SNPshotrs786204551
SNPdbers786204551
MSV3drs786204551
GWAS Ctlgrs786204551
Max Magnitude0
ClinVar
Risk rs786204551(-;-)
Alt rs786204551(-;-)
Reference Rs786204551(A;A)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80478481delA
CLNSRC
CLNACC RCV000169267.1,