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rs1057516326

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516326(A;A)
Make rs1057516326(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26236929
GeneHADHA
is asnp
is mentioned by
dbSNPrs1057516326
dbSNP (old)rs1057516326
ClinGenrs1057516326
ebirs1057516326
HLIrs1057516326
Exacrs1057516326
Gnomadrs1057516326
Varsomers1057516326
Maprs1057516326
PheGenIrs1057516326
Biobankrs1057516326
1000 genomesrs1057516326
hgdprs1057516326
ensemblrs1057516326
gopubmedrs1057516326
geneviewrs1057516326
scholarrs1057516326
googlers1057516326
pharmgkbrs1057516326
gwascentralrs1057516326
openSNPrs1057516326
23andMers1057516326
23andMe allrs1057516326
SNPshotrs1057516326
SNPdbers1057516326
MSV3drs1057516326
GWAS Ctlgrs1057516326
Max Magnitude0
ClinVar
Risk rs1057516326(A;A)
Alt rs1057516326(A;A)
Reference Rs1057516326(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.26459797C>T
CLNSRC
CLNACC RCV000411851.1,