rs786204503

Orientation

minus

Stabilized

minus

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

Make rs786204503(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

101425629

Gene

ALDOB

is a	snp
is	mentioned by
dbSNP	rs786204503
dbSNP (classic)	rs786204503
ClinGen	rs786204503
ebi	rs786204503
HLI	rs786204503
Exac	rs786204503
Gnomad	rs786204503
Varsome	rs786204503
LitVar	rs786204503
Map	rs786204503
PheGenI	rs786204503
Biobank	rs786204503
1000 genomes	rs786204503
hgdp	rs786204503
ensembl	rs786204503
geneview	rs786204503
scholar	rs786204503
google	rs786204503
pharmgkb	rs786204503
gwascentral	rs786204503
openSNP	rs786204503
23andMe	rs786204503
SNPshot	rs786204503
SNPdbe	rs786204503
MSV3d	rs786204503
GWAS Ctlg	rs786204503

Max Magnitude

3

ClinVar
Risk	rs786204503(G;G)
Alt	rs786204503(G;G)
Reference	Rs786204503(A;A)
Significance	Probable-Pathogenic
Disease	Hereditary fructosuria
Variation	info
Gene	ALDOB
CLNDBN	Hereditary fructosuria
Reversed	1
HGVS	NC_000009.11:g.104187911T>C
CLNSRC
CLNACC	RCV000169186.1,