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rs1057517132

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517132(G;T)
Make rs1057517132(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26191558
GeneGAREM2, HADHA
is asnp
is mentioned by
dbSNPrs1057517132
dbSNP (classic)rs1057517132
ClinGenrs1057517132
ebirs1057517132
HLIrs1057517132
Exacrs1057517132
Gnomadrs1057517132
Varsomers1057517132
LitVarrs1057517132
Maprs1057517132
PheGenIrs1057517132
Biobankrs1057517132
1000 genomesrs1057517132
hgdprs1057517132
ensemblrs1057517132
geneviewrs1057517132
scholarrs1057517132
googlers1057517132
pharmgkbrs1057517132
gwascentralrs1057517132
openSNPrs1057517132
23andMers1057517132
SNPshotrs1057517132
SNPdbers1057517132
MSV3drs1057517132
GWAS Ctlgrs1057517132
Max Magnitude0
ClinVar
Risk rs1057517132(T;T)
Alt rs1057517132(T;T)
Reference Rs1057517132(G;G)
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.26414427C>A
CLNSRC
CLNACC RCV000410253.1,