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rs1057517421

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517421(-;-)
Make rs1057517421(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position101427602
GeneALDOB
is asnp
is mentioned by
dbSNPrs1057517421
dbSNP (classic)rs1057517421
ClinGenrs1057517421
ebirs1057517421
HLIrs1057517421
Exacrs1057517421
Gnomadrs1057517421
Varsomers1057517421
LitVarrs1057517421
Maprs1057517421
PheGenIrs1057517421
Biobankrs1057517421
1000 genomesrs1057517421
hgdprs1057517421
ensemblrs1057517421
geneviewrs1057517421
scholarrs1057517421
googlers1057517421
pharmgkbrs1057517421
gwascentralrs1057517421
openSNPrs1057517421
23andMers1057517421
23andMe allrs1057517421
SNPshotrs1057517421
SNPdbers1057517421
MSV3drs1057517421
GWAS Ctlgrs1057517421
Max Magnitude0
ClinVar
Risk rs1057517421(-;-)
Alt rs1057517421(-;-)
Reference Rs1057517421(A;A)
Significance Probable-Pathogenic
Disease Hereditary fructosuria
Variation info
Gene ALDOB
CLNDBN Hereditary fructosuria
Reversed 1
HGVS NC_000009.11:g.104189884delT
CLNSRC
CLNACC RCV000411375.1,