rs118204430

Orientation

minus

Stabilized

minus

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

Make rs118204430(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

101427580

Gene

ALDOB

is a	snp
is	mentioned by
dbSNP	rs118204430
dbSNP (classic)	rs118204430
ClinGen	rs118204430
ebi	rs118204430
HLI	rs118204430
Exac	rs118204430
Gnomad	rs118204430
Varsome	rs118204430
LitVar	rs118204430
Map	rs118204430
PheGenI	rs118204430
Biobank	rs118204430
1000 genomes	rs118204430
hgdp	rs118204430
ensembl	rs118204430
geneview	rs118204430
scholar	rs118204430
google	rs118204430
pharmgkb	rs118204430
gwascentral	rs118204430
openSNP	rs118204430
23andMe	rs118204430
SNPshot	rs118204430
SNPdbe	rs118204430
MSV3d	rs118204430
GWAS Ctlg	rs118204430

Max Magnitude

3

OMIM	612724
Desc
Variant	0012
Related	also

ClinVar
Risk	rs118204430(C;C) rs118204430(G;G)
Alt	rs118204430(C;C) rs118204430(G;G)
Reference	Rs118204430(T;T)
Significance	Pathogenic
Disease	Hereditary fructosuria
Variation	info
Gene	ALDOB
CLNDBN	Hereditary fructosuria
Reversed	1
HGVS	NC_000009.11:g.104189862A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000504.3,