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rs137852861

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852861(C;T)
Make rs137852861(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position40237664
GeneSUGCT
is asnp
is mentioned by
dbSNPrs137852861
dbSNP (classic)rs137852861
ClinGenrs137852861
ebirs137852861
HLIrs137852861
Exacrs137852861
Gnomadrs137852861
Varsomers137852861
LitVarrs137852861
Maprs137852861
PheGenIrs137852861
Biobankrs137852861
1000 genomesrs137852861
hgdprs137852861
ensemblrs137852861
geneviewrs137852861
scholarrs137852861
googlers137852861
pharmgkbrs137852861
gwascentralrs137852861
openSNPrs137852861
23andMers137852861
SNPshotrs137852861
SNPdbers137852861
MSV3drs137852861
GWAS Ctlgrs137852861
Max Magnitude0
OMIM609187
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852861(T;T)
Alt rs137852861(T;T)
Reference Rs137852861(C;C)
Significance Pathogenic
Disease Glutaryl-CoA oxidase deficiency
Variation info
Gene SUGCT
CLNDBN Glutaryl-CoA oxidase deficiency
Reversed 0
HGVS NC_000007.13:g.40277263C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001924.3,