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rs1057516233

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516233(C;C)
Make rs1057516233(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26201321
GeneGAREM2, HADHA
is asnp
is mentioned by
dbSNPrs1057516233
dbSNP (old)rs1057516233
ClinGenrs1057516233
ebirs1057516233
HLIrs1057516233
Exacrs1057516233
Gnomadrs1057516233
Varsomers1057516233
Maprs1057516233
PheGenIrs1057516233
Biobankrs1057516233
1000 genomesrs1057516233
hgdprs1057516233
ensemblrs1057516233
gopubmedrs1057516233
geneviewrs1057516233
scholarrs1057516233
googlers1057516233
pharmgkbrs1057516233
gwascentralrs1057516233
openSNPrs1057516233
23andMers1057516233
23andMe allrs1057516233
SNPshotrs1057516233
SNPdbers1057516233
MSV3drs1057516233
GWAS Ctlgrs1057516233
Max Magnitude0
ClinVar
Risk rs1057516233(C;C)
Alt rs1057516233(C;C)
Reference Rs1057516233(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.26424190C>G
CLNSRC
CLNACC RCV000411941.1,