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rs76917243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 carrier for hereditary fructose intolerance allele
(T;T) 5 hereditary fructose intolerance
ReferenceGRCh38 38.1/141
Chromosome9
Position101427498
GeneALDOB
is asnp
is mentioned by
dbSNPrs76917243
ebirs76917243
HLIrs76917243
Exacrs76917243
Varsomers76917243
Maprs76917243
PheGenIrs76917243
hapmaprs76917243
1000 genomesrs76917243
hgdprs76917243
ensemblrs76917243
gopubmedrs76917243
geneviewrs76917243
scholarrs76917243
googlers76917243
pharmgkbrs76917243
gwascentralrs76917243
openSNPrs76917243
23andMers76917243
23andMe allrs76917243
SNP Nexus

SNPshotrs76917243
SNPdbers76917243
MSV3drs76917243
GWAS Ctlgrs76917243
GMAF0.0009183
Max Magnitude5
OMIM612724
Desc
Variant0002
Relatedalso
ClinVar
Risk rs76917243(T;T)
Alt rs76917243(T;T)
Reference rs76917243(G;G)
Significance Pathogenic
Disease Hereditary fructosuria
Variation info
Gene ALDOB
CLNDBN Hereditary fructosuria
Reversed 0
HGVS NC_000009.11:g.104189780G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000494.3,