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rs139851890

From SNPedia

Orientationplus
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
ebirs139851890
HLIrs139851890
Exacrs139851890
Varsomers139851890
Maprs139851890
PheGenIrs139851890
hapmaprs139851890
1000 genomesrs139851890
hgdprs139851890
ensemblrs139851890
gopubmedrs139851890
geneviewrs139851890
scholarrs139851890
googlers139851890
pharmgkbrs139851890
gwascentralrs139851890
openSNPrs139851890
23andMers139851890
23andMe allrs139851890
SNP Nexus

SNPshotrs139851890
SNPdbers139851890
MSV3drs139851890
GWAS Ctlgrs139851890
Max Magnitude0
ClinVar
Risk rs139851890(T;T)
Alt rs139851890(T;T)
Reference rs139851890(C;C)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13004378C>T
CLNSRC Counsyl
CLNACC RCV000169288.1,