rs387906225

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;AAAC)	3	carrier of hereditary fructose intolerance allele
(AAAC;AAAC)	0	common/normal
(AACA;AACA)	0	common in clinvar
(CAAA;CAAA)	0	common in clinvar

Make rs387906225(-;-)

Reference

GRCh38 38.1/141

Chromosome

9

Position

101428488

Gene

ALDOB

is a	snp
is	mentioned by
dbSNP	rs387906225
dbSNP (classic)	rs387906225
ClinGen	rs387906225
ebi	rs387906225
HLI	rs387906225
Exac	rs387906225
Gnomad	rs387906225
Varsome	rs387906225
LitVar	rs387906225
Map	rs387906225
PheGenI	rs387906225
Biobank	rs387906225
1000 genomes	rs387906225
hgdp	rs387906225
ensembl	rs387906225
geneview	rs387906225
scholar	rs387906225
google	rs387906225
pharmgkb	rs387906225
gwascentral	rs387906225
openSNP	rs387906225
23andMe	rs387906225
SNPshot	rs387906225
SNPdbe	rs387906225
MSV3d	rs387906225
GWAS Ctlg	rs387906225

Max Magnitude

3

aka c.360_363delCAAA (p.Asn120Lysfs)

ClinVar
Risk	Rs387906225(CAAA;CAAA) rs387906225(-;-)
Alt	Rs387906225(CAAA;CAAA) rs387906225(-;-)
Reference	Rs387906225(AAAC;AAAC)
Significance	Other
Disease	Hereditary fructosuria
Variation	info
Gene	ALDOB
CLNDBN	Hereditary fructosuria
Reversed	1
HGVS	NC_000009.11:g.104190767_104190770delTTTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000169213.4,