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rs1057516417

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516417(A;A)
Make rs1057516417(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26234216
GeneHADHA
is asnp
is mentioned by
dbSNPrs1057516417
dbSNP (old)rs1057516417
ClinGenrs1057516417
ebirs1057516417
HLIrs1057516417
Exacrs1057516417
Gnomadrs1057516417
Varsomers1057516417
Maprs1057516417
PheGenIrs1057516417
Biobankrs1057516417
1000 genomesrs1057516417
hgdprs1057516417
ensemblrs1057516417
gopubmedrs1057516417
geneviewrs1057516417
scholarrs1057516417
googlers1057516417
pharmgkbrs1057516417
gwascentralrs1057516417
openSNPrs1057516417
23andMers1057516417
23andMe allrs1057516417
SNPshotrs1057516417
SNPdbers1057516417
MSV3drs1057516417
GWAS Ctlgrs1057516417
Max Magnitude0
ClinVar
Risk rs1057516417(A;A)
Alt rs1057516417(A;A)
Reference Rs1057516417(G;G)
Significance Probable-Pathogenic
Disease Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Variation info
Gene HADHA
CLNDBN Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Reversed 1
HGVS NC_000002.11:g.26457084C>T
CLNSRC
CLNACC RCV000410550.1,