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rs786204503

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a hereditary fructose intolerance mutation
Make rs786204503(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position101425629
GeneALDOB
is asnp
is mentioned by
dbSNPrs786204503
dbSNP (classic)rs786204503
ClinGenrs786204503
ebirs786204503
HLIrs786204503
Exacrs786204503
Gnomadrs786204503
Varsomers786204503
LitVarrs786204503
Maprs786204503
PheGenIrs786204503
Biobankrs786204503
1000 genomesrs786204503
hgdprs786204503
ensemblrs786204503
geneviewrs786204503
scholarrs786204503
googlers786204503
pharmgkbrs786204503
gwascentralrs786204503
openSNPrs786204503
23andMers786204503
SNPshotrs786204503
SNPdbers786204503
MSV3drs786204503
GWAS Ctlgrs786204503
Max Magnitude3
ClinVar
Risk rs786204503(G;G)
Alt rs786204503(G;G)
Reference Rs786204503(A;A)
Significance Probable-Pathogenic
Disease Hereditary fructosuria
Variation info
Gene ALDOB
CLNDBN Hereditary fructosuria
Reversed 1
HGVS NC_000009.11:g.104187911T>C
CLNSRC
CLNACC RCV000169186.1,