rs118204428

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a hereditary fructose intolerance mutation

Make rs118204428(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

101430878

Gene

ALDOB

is a	snp
is	mentioned by
dbSNP	rs118204428
dbSNP (classic)	rs118204428
ClinGen	rs118204428
ebi	rs118204428
HLI	rs118204428
Exac	rs118204428
Gnomad	rs118204428
Varsome	rs118204428
LitVar	rs118204428
Map	rs118204428
PheGenI	rs118204428
Biobank	rs118204428
1000 genomes	rs118204428
hgdp	rs118204428
ensembl	rs118204428
geneview	rs118204428
scholar	rs118204428
google	rs118204428
pharmgkb	rs118204428
gwascentral	rs118204428
openSNP	rs118204428
23andMe	rs118204428
SNPshot	rs118204428
SNPdbe	rs118204428
MSV3d	rs118204428
GWAS Ctlg	rs118204428

Max Magnitude

3

OMIM	612724
Desc
Variant	0008
Related	also

ClinVar
Risk	rs118204428(T;T)
Alt	rs118204428(T;T)
Reference	Rs118204428(C;C)
Significance	Other
Disease	Hereditary fructosuria
Variation	info
Gene	ALDOB
CLNDBN	Hereditary fructosuria
Reversed	1
HGVS	NC_000009.11:g.104193160G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000500.4,