rs77718928

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Unaffected carrier of hereditary fructose intolerance allele

Make rs77718928(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

101421891

Gene

ALDOB

is a	snp
is	mentioned by
dbSNP	rs77718928
dbSNP (classic)	rs77718928
ClinGen	rs77718928
ebi	rs77718928
HLI	rs77718928
Exac	rs77718928
Gnomad	rs77718928
Varsome	rs77718928
LitVar	rs77718928
Map	rs77718928
PheGenI	rs77718928
Biobank	rs77718928
1000 genomes	rs77718928
hgdp	rs77718928
ensembl	rs77718928
geneview	rs77718928
scholar	rs77718928
google	rs77718928
pharmgkb	rs77718928
gwascentral	rs77718928
openSNP	rs77718928
23andMe	rs77718928
SNPshot	rs77718928
SNPdbe	rs77718928
MSV3d	rs77718928
GWAS Ctlg	rs77718928

Max Magnitude

3

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,