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rs768836114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs768836114(G;G)
Make rs768836114(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12893487
GeneGCDH
is asnp
is mentioned by
dbSNPrs768836114
dbSNP (classic)rs768836114
ClinGenrs768836114
ebirs768836114
HLIrs768836114
Exacrs768836114
Gnomadrs768836114
Varsomers768836114
LitVarrs768836114
Maprs768836114
PheGenIrs768836114
Biobankrs768836114
1000 genomesrs768836114
hgdprs768836114
ensemblrs768836114
geneviewrs768836114
scholarrs768836114
googlers768836114
pharmgkbrs768836114
gwascentralrs768836114
openSNPrs768836114
23andMers768836114
23andMe allrs768836114
SNPshotrs768836114
SNPdbers768836114
MSV3drs768836114
GWAS Ctlgrs768836114
Max Magnitude0
ClinVar
Risk rs768836114(A;A) rs768836114(G;G)
Alt rs768836114(A;A) rs768836114(G;G)
Reference Rs768836114(T;T)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13004301T>G
CLNSRC
CLNACC RCV000412155.1,