rs118204426

Orientation

minus

Stabilized

minus

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

Make rs118204426(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

101425532

Gene

ALDOB

is a	snp
is	mentioned by
dbSNP	rs118204426
dbSNP (classic)	rs118204426
ClinGen	rs118204426
ebi	rs118204426
HLI	rs118204426
Exac	rs118204426
Gnomad	rs118204426
Varsome	rs118204426
LitVar	rs118204426
Map	rs118204426
PheGenI	rs118204426
Biobank	rs118204426
1000 genomes	rs118204426
hgdp	rs118204426
ensembl	rs118204426
geneview	rs118204426
scholar	rs118204426
google	rs118204426
pharmgkb	rs118204426
gwascentral	rs118204426
openSNP	rs118204426
23andMe	rs118204426
SNPshot	rs118204426
SNPdbe	rs118204426
MSV3d	rs118204426
GWAS Ctlg	rs118204426

Max Magnitude

3

OMIM	612724
Desc
Variant	0005
Related	also

ClinVar
Risk	rs118204426(A;A)
Alt	rs118204426(A;A)
Reference	Rs118204426(C;C)
Significance	Pathogenic
Disease	Hereditary fructosuria
Variation	info
Gene	ALDOB
CLNDBN	Hereditary fructosuria
Reversed	1
HGVS	NC_000009.11:g.104187814G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000497.2,