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rs137852860

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852860(C;T)
Make rs137852860(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position40459197
GeneSUGCT
is asnp
is mentioned by
dbSNPrs137852860
dbSNP (classic)rs137852860
ClinGenrs137852860
ebirs137852860
HLIrs137852860
Exacrs137852860
Gnomadrs137852860
Varsomers137852860
LitVarrs137852860
Maprs137852860
PheGenIrs137852860
Biobankrs137852860
1000 genomesrs137852860
hgdprs137852860
ensemblrs137852860
geneviewrs137852860
scholarrs137852860
googlers137852860
pharmgkbrs137852860
gwascentralrs137852860
openSNPrs137852860
23andMers137852860
SNPshotrs137852860
SNPdbers137852860
MSV3drs137852860
GWAS Ctlgrs137852860
GMAF0.001837
Max Magnitude0
OMIM609187
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852860(T;T)
Alt rs137852860(T;T)
Reference Rs137852860(C;C)
Significance Pathogenic
Disease Glutaryl-CoA oxidase deficiency not provided
Variation info
Gene SUGCT
CLNDBN Glutaryl-CoA oxidase deficiency not provided
Reversed 0
HGVS NC_000007.13:g.40498796C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001923.3, RCV000413225.1,