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rs1057516556

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516556(-;-)
Make rs1057516556(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26209813
GeneHADHA
is asnp
is mentioned by
dbSNPrs1057516556
dbSNP (old)rs1057516556
ClinGenrs1057516556
ebirs1057516556
HLIrs1057516556
Exacrs1057516556
Gnomadrs1057516556
Varsomers1057516556
Maprs1057516556
PheGenIrs1057516556
Biobankrs1057516556
1000 genomesrs1057516556
hgdprs1057516556
ensemblrs1057516556
gopubmedrs1057516556
geneviewrs1057516556
scholarrs1057516556
googlers1057516556
pharmgkbrs1057516556
gwascentralrs1057516556
openSNPrs1057516556
23andMers1057516556
23andMe allrs1057516556
SNPshotrs1057516556
SNPdbers1057516556
MSV3drs1057516556
GWAS Ctlgrs1057516556
Max Magnitude0
ClinVar
Risk rs1057516556(-;-)
Alt rs1057516556(-;-)
Reference Rs1057516556(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.26432682delT
CLNSRC
CLNACC RCV000409333.1,