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rs1057517282

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517282(-;-)
Make rs1057517282(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26232218
GeneHADHA
is asnp
is mentioned by
dbSNPrs1057517282
dbSNP (old)rs1057517282
ClinGenrs1057517282
ebirs1057517282
HLIrs1057517282
Exacrs1057517282
Gnomadrs1057517282
Varsomers1057517282
Maprs1057517282
PheGenIrs1057517282
Biobankrs1057517282
1000 genomesrs1057517282
hgdprs1057517282
ensemblrs1057517282
gopubmedrs1057517282
geneviewrs1057517282
scholarrs1057517282
googlers1057517282
pharmgkbrs1057517282
gwascentralrs1057517282
openSNPrs1057517282
23andMers1057517282
23andMe allrs1057517282
SNPshotrs1057517282
SNPdbers1057517282
MSV3drs1057517282
GWAS Ctlgrs1057517282
Max Magnitude0
ClinVar
Risk rs1057517282(-;-)
Alt rs1057517282(-;-)
Reference Rs1057517282(C;C)
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.26455086delG
CLNSRC
CLNACC RCV000411006.1,