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rs8012

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs8012(A;G)
Make rs8012(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position12899706
GeneGCDH, SYCE2
is asnp
is mentioned by
dbSNPrs8012
ebirs8012
HLIrs8012
Exacrs8012
Varsomers8012
Maprs8012
PheGenIrs8012
hapmaprs8012
1000 genomesrs8012
hgdprs8012
ensemblrs8012
gopubmedrs8012
geneviewrs8012
scholarrs8012
googlers8012
pharmgkbrs8012
gwascentralrs8012
openSNPrs8012
23andMers8012
23andMe allrs8012
SNP Nexus

SNPshotrs8012
SNPdbers8012
MSV3drs8012
GWAS Ctlgrs8012
Max Magnitude0
GWAS snp
PMID [PMID 24816252OA-icon.png]
Trait Blood metabolite levels
Title An atlas of genetic influences on human blood metabolites.
Risk Allele A
P-val 6E-45
Odds Ratio .04 [0.031-0.043] unit increase


ClinVar
Risk rs8012(G;G)
Alt rs8012(G;G)
Reference rs8012(A;A)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene SYCE2 GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13010520A>G
CLNSRC
CLNACC RCV000190518.1,