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rs1057516734

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs1057516734(-;-)
Make rs1057516734(-;GT)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26201196
GeneGAREM2, HADHA
is asnp
is mentioned by
dbSNPrs1057516734
dbSNP (classic)rs1057516734
ClinGenrs1057516734
ebirs1057516734
HLIrs1057516734
Exacrs1057516734
Gnomadrs1057516734
Varsomers1057516734
LitVarrs1057516734
Maprs1057516734
PheGenIrs1057516734
Biobankrs1057516734
1000 genomesrs1057516734
hgdprs1057516734
ensemblrs1057516734
geneviewrs1057516734
scholarrs1057516734
googlers1057516734
pharmgkbrs1057516734
gwascentralrs1057516734
openSNPrs1057516734
23andMers1057516734
SNPshotrs1057516734
SNPdbers1057516734
MSV3drs1057516734
GWAS Ctlgrs1057516734
Max Magnitude0
ClinVar
Risk rs1057516734(-;-)
Alt rs1057516734(-;-)
Reference Rs1057516734(GT;GT)
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.26424065_26424066delAC
CLNSRC
CLNACC RCV000410451.1,