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rs137852862

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852862(C;T)
Make rs137852862(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position40188569
GeneC7orf10
is asnp
is mentioned by
dbSNPrs137852862
ebirs137852862
HLIrs137852862
Exacrs137852862
Varsomers137852862
Maprs137852862
PheGenIrs137852862
hapmaprs137852862
1000 genomesrs137852862
hgdprs137852862
ensemblrs137852862
gopubmedrs137852862
geneviewrs137852862
scholarrs137852862
googlers137852862
pharmgkbrs137852862
gwascentralrs137852862
openSNPrs137852862
23andMers137852862
23andMe allrs137852862
SNP Nexus

SNPshotrs137852862
SNPdbers137852862
MSV3drs137852862
GWAS Ctlgrs137852862
GMAF0.0004591
Max Magnitude0
OMIM609187
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852862(T;T)
Alt rs137852862(T;T)
Reference rs137852862(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.40228168C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001925.3,