rs78340951

Orientation

minus

Stabilized

minus

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

Make rs78340951(G;G)

Reference

GRCh38 38.1/142

Chromosome

9

Position

101421899

Gene

ALDOB

is a	snp
is	mentioned by
dbSNP	rs78340951
dbSNP (classic)	rs78340951
ClinGen	rs78340951
ebi	rs78340951
HLI	rs78340951
Exac	rs78340951
Gnomad	rs78340951
Varsome	rs78340951
LitVar	rs78340951
Map	rs78340951
PheGenI	rs78340951
Biobank	rs78340951
1000 genomes	rs78340951
hgdp	rs78340951
ensembl	rs78340951
geneview	rs78340951
scholar	rs78340951
google	rs78340951
pharmgkb	rs78340951
gwascentral	rs78340951
openSNP	rs78340951
23andMe	rs78340951
SNPshot	rs78340951
SNPdbe	rs78340951
MSV3d	rs78340951
GWAS Ctlg	rs78340951

Max Magnitude

3

aka c.1005C>G (p.Asn335Lys)

FTDNA & MyHeritage name: VG09S52451

OMIM	612724
Desc
Variant	0006
Related	also

ClinVar
Risk	rs78340951(G;G) rs78340951(T;T)
Alt	rs78340951(G;G) rs78340951(T;T)
Reference	Rs78340951(C;C)
Significance	Pathogenic
Disease	Hereditary fructosuria
Variation	info
Gene	ALDOB
CLNDBN	Hereditary fructosuria
Reversed	1
HGVS	NC_000009.11:g.104184181G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000498.4,