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rs1057516991

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516991(-;-)
Make rs1057516991(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26195122
GeneGAREM2, HADHA, LOC107985860
is asnp
is mentioned by
dbSNPrs1057516991
dbSNP (old)rs1057516991
ClinGenrs1057516991
ebirs1057516991
HLIrs1057516991
Exacrs1057516991
Gnomadrs1057516991
Varsomers1057516991
Maprs1057516991
PheGenIrs1057516991
Biobankrs1057516991
1000 genomesrs1057516991
hgdprs1057516991
ensemblrs1057516991
gopubmedrs1057516991
geneviewrs1057516991
scholarrs1057516991
googlers1057516991
pharmgkbrs1057516991
gwascentralrs1057516991
openSNPrs1057516991
23andMers1057516991
23andMe allrs1057516991
SNPshotrs1057516991
SNPdbers1057516991
MSV3drs1057516991
GWAS Ctlgrs1057516991
Max Magnitude0
ClinVar
Risk rs1057516991(-;-)
Alt rs1057516991(-;-)
Reference Rs1057516991(C;C)
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.26417991delG
CLNSRC
CLNACC RCV000410644.1,