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rs1057517430

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517430(A;G)
Make rs1057517430(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26244596
GeneHADHA, HADHB
is asnp
is mentioned by
dbSNPrs1057517430
dbSNP (old)rs1057517430
ClinGenrs1057517430
ebirs1057517430
HLIrs1057517430
Exacrs1057517430
Gnomadrs1057517430
Varsomers1057517430
Maprs1057517430
PheGenIrs1057517430
Biobankrs1057517430
1000 genomesrs1057517430
hgdprs1057517430
ensemblrs1057517430
gopubmedrs1057517430
geneviewrs1057517430
scholarrs1057517430
googlers1057517430
pharmgkbrs1057517430
gwascentralrs1057517430
openSNPrs1057517430
23andMers1057517430
23andMe allrs1057517430
SNPshotrs1057517430
SNPdbers1057517430
MSV3drs1057517430
GWAS Ctlgrs1057517430
Max Magnitude0
ClinVar
Risk rs1057517430(G;G)
Alt rs1057517430(G;G)
Reference Rs1057517430(A;A)
Significance Probable-Pathogenic
Disease Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Variation info
Gene HADHB HADHA
CLNDBN Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Reversed 1
HGVS NC_000002.11:g.26467464T>C
CLNSRC
CLNACC RCV000410119.1,