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rs786204598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GGTA) 3 Carrier of a hereditary fructose intolerance mutation
(GGTA;GGTA) 0 common in clinvar


Make rs786204598(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position101429964
GeneALDOB
is asnp
is mentioned by
dbSNPrs786204598
dbSNP (classic)rs786204598
ClinGenrs786204598
ebirs786204598
HLIrs786204598
Exacrs786204598
Gnomadrs786204598
Varsomers786204598
LitVarrs786204598
Maprs786204598
PheGenIrs786204598
Biobankrs786204598
1000 genomesrs786204598
hgdprs786204598
ensemblrs786204598
geneviewrs786204598
scholarrs786204598
googlers786204598
pharmgkbrs786204598
gwascentralrs786204598
openSNPrs786204598
23andMers786204598
SNPshotrs786204598
SNPdbers786204598
MSV3drs786204598
GWAS Ctlgrs786204598
Max Magnitude3
ClinVar
Risk rs786204598(-;-)
Alt rs786204598(-;-)
Reference Rs786204598(GGTA;GGTA)
Significance Probable-Pathogenic
Disease Hereditary fructosuria
Variation info
Gene ALDOB
CLNDBN Hereditary fructosuria
Reversed 1
HGVS NC_000009.11:g.104192246_104192249delTACC
CLNSRC
CLNACC RCV000169352.1,