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rs1057516460

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAGGCATCTG;CAGGCATCTG) 0 common in clinvar
Make rs1057516460(-;-)
Make rs1057516460(-;CAGGCATCTG)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26204190
GeneHADHA
is asnp
is mentioned by
dbSNPrs1057516460
dbSNP (classic)rs1057516460
ClinGenrs1057516460
ebirs1057516460
HLIrs1057516460
Exacrs1057516460
Gnomadrs1057516460
Varsomers1057516460
LitVarrs1057516460
Maprs1057516460
PheGenIrs1057516460
Biobankrs1057516460
1000 genomesrs1057516460
hgdprs1057516460
ensemblrs1057516460
geneviewrs1057516460
scholarrs1057516460
googlers1057516460
pharmgkbrs1057516460
gwascentralrs1057516460
openSNPrs1057516460
23andMers1057516460
23andMe allrs1057516460
SNPshotrs1057516460
SNPdbers1057516460
MSV3drs1057516460
GWAS Ctlgrs1057516460
Max Magnitude0
ClinVar
Risk rs1057516460(-;-)
Alt rs1057516460(-;-)
Reference Rs1057516460(CAGGCATCTG;CAGGCATCTG)
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.26427059_26427068delCAGATGCCTG
CLNSRC
CLNACC RCV000412154.1,