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rs1057517087

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517087(-;-)
Make rs1057517087(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26204080
GeneHADHA
is asnp
is mentioned by
dbSNPrs1057517087
dbSNP (old)rs1057517087
ClinGenrs1057517087
ebirs1057517087
HLIrs1057517087
Exacrs1057517087
Gnomadrs1057517087
Varsomers1057517087
Maprs1057517087
PheGenIrs1057517087
Biobankrs1057517087
1000 genomesrs1057517087
hgdprs1057517087
ensemblrs1057517087
gopubmedrs1057517087
geneviewrs1057517087
scholarrs1057517087
googlers1057517087
pharmgkbrs1057517087
gwascentralrs1057517087
openSNPrs1057517087
23andMers1057517087
23andMe allrs1057517087
SNPshotrs1057517087
SNPdbers1057517087
MSV3drs1057517087
GWAS Ctlgrs1057517087
Max Magnitude0
ClinVar
Risk rs1057517087(-;-)
Alt rs1057517087(-;-)
Reference Rs1057517087(A;A)
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.26426949delT
CLNSRC
CLNACC RCV000412311.1,