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rs139851890

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139851890(C;T)
Make rs139851890(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position12893564
GeneGCDH
is asnp
is mentioned by
dbSNPrs139851890
dbSNP (classic)rs139851890
ClinGenrs139851890
ebirs139851890
HLIrs139851890
Exacrs139851890
Gnomadrs139851890
Varsomers139851890
LitVarrs139851890
Maprs139851890
PheGenIrs139851890
Biobankrs139851890
1000 genomesrs139851890
hgdprs139851890
ensemblrs139851890
geneviewrs139851890
scholarrs139851890
googlers139851890
pharmgkbrs139851890
gwascentralrs139851890
openSNPrs139851890
23andMers139851890
SNPshotrs139851890
SNPdbers139851890
MSV3drs139851890
GWAS Ctlgrs139851890
Max Magnitude0
ClinVar
Risk rs139851890(T;T)
Alt rs139851890(T;T)
Reference Rs139851890(C;C)
Significance Pathogenic
Disease Glutaric aciduria not provided
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1 not provided
Reversed 0
HGVS NC_000019.9:g.13004378C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000169288.1, RCV000254928.1,