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rs752334462

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Glutaric aciduria type I mutation
Make rs752334462(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12893530
GeneGCDH
is asnp
is mentioned by
dbSNPrs752334462
dbSNP (classic)rs752334462
ClinGenrs752334462
ebirs752334462
HLIrs752334462
Exacrs752334462
Gnomadrs752334462
Varsomers752334462
LitVarrs752334462
Maprs752334462
PheGenIrs752334462
Biobankrs752334462
1000 genomesrs752334462
hgdprs752334462
ensemblrs752334462
geneviewrs752334462
scholarrs752334462
googlers752334462
pharmgkbrs752334462
gwascentralrs752334462
openSNPrs752334462
23andMers752334462
SNPshotrs752334462
SNPdbers752334462
MSV3drs752334462
GWAS Ctlgrs752334462
Max Magnitude3
ClinVar
Risk rs752334462(T;T)
Alt rs752334462(T;T)
Reference Rs752334462(C;C)
Significance Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13004344C>T
CLNSRC
CLNACC RCV000409274.1,