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rs77718928

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Unaffected carrier of hereditary fructose intolerance allele
Make rs77718928(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position101421891
GeneALDOB
is asnp
is mentioned by
dbSNPrs77718928
dbSNP (classic)rs77718928
ClinGenrs77718928
ebirs77718928
HLIrs77718928
Exacrs77718928
Gnomadrs77718928
Varsomers77718928
LitVarrs77718928
Maprs77718928
PheGenIrs77718928
Biobankrs77718928
1000 genomesrs77718928
hgdprs77718928
ensemblrs77718928
geneviewrs77718928
scholarrs77718928
googlers77718928
pharmgkbrs77718928
gwascentralrs77718928
openSNPrs77718928
23andMers77718928
SNPshotrs77718928
SNPdbers77718928
MSV3drs77718928
GWAS Ctlgrs77718928
Max Magnitude3

aka c.1013C>T (p.Ala338Val)

FTDNA & MyHeritage name: VG09S31531

ClinVar
Risk rs77718928(G;G) rs77718928(T;T)
Alt rs77718928(G;G) rs77718928(T;T)
Reference Rs77718928(C;C)
Significance Probable-Pathogenic
Disease Hereditary fructosuria
Variation info
Gene ALDOB
CLNDBN Hereditary fructosuria
Reversed 1
HGVS NC_000009.11:g.104184173G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000169047.1,