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rs1057516350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516350(C;C)
Make rs1057516350(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26191481
GeneGAREM2, HADHA
is asnp
is mentioned by
dbSNPrs1057516350
dbSNP (old)rs1057516350
ClinGenrs1057516350
ebirs1057516350
HLIrs1057516350
Exacrs1057516350
Gnomadrs1057516350
Varsomers1057516350
LitVarrs1057516350
Maprs1057516350
PheGenIrs1057516350
Biobankrs1057516350
1000 genomesrs1057516350
hgdprs1057516350
ensemblrs1057516350
gopubmedrs1057516350
geneviewrs1057516350
scholarrs1057516350
googlers1057516350
pharmgkbrs1057516350
gwascentralrs1057516350
openSNPrs1057516350
23andMers1057516350
23andMe allrs1057516350
SNPshotrs1057516350
SNPdbers1057516350
MSV3drs1057516350
GWAS Ctlgrs1057516350
Max Magnitude0
ClinVar
Risk rs1057516350(C;C)
Alt rs1057516350(C;C)
Reference Rs1057516350(T;T)
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.26414350A>G
CLNSRC
CLNACC RCV000409142.1,