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rs142967670

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142967670(C;T)
Make rs142967670(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position12891965
GeneGCDH
is asnp
is mentioned by
dbSNPrs142967670
ebirs142967670
HLIrs142967670
Exacrs142967670
Varsomers142967670
Maprs142967670
PheGenIrs142967670
hapmaprs142967670
1000 genomesrs142967670
hgdprs142967670
ensemblrs142967670
gopubmedrs142967670
geneviewrs142967670
scholarrs142967670
googlers142967670
pharmgkbrs142967670
gwascentralrs142967670
openSNPrs142967670
23andMers142967670
23andMe allrs142967670
SNP Nexus

SNPshotrs142967670
SNPdbers142967670
MSV3drs142967670
GWAS Ctlgrs142967670
Max Magnitude0
ClinVar
Risk rs142967670(T;T)
Alt rs142967670(T;T)
Reference rs142967670(C;C)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13002779C>T
CLNSRC Counsyl
CLNACC RCV000169574.1,