Have questions? Visit https://www.reddit.com/r/SNPedia

rs766518430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs766518430(C;T)
Make rs766518430(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position12896338
GeneGCDH
is asnp
is mentioned by
dbSNPrs766518430
dbSNP (classic)rs766518430
ClinGenrs766518430
ebirs766518430
HLIrs766518430
Exacrs766518430
Gnomadrs766518430
Varsomers766518430
LitVarrs766518430
Maprs766518430
PheGenIrs766518430
Biobankrs766518430
1000 genomesrs766518430
hgdprs766518430
ensemblrs766518430
geneviewrs766518430
scholarrs766518430
googlers766518430
pharmgkbrs766518430
gwascentralrs766518430
openSNPrs766518430
23andMers766518430
SNPshotrs766518430
SNPdbers766518430
MSV3drs766518430
GWAS Ctlgrs766518430
Max Magnitude0
ClinVar
Risk rs766518430(T;T)
Alt rs766518430(T;T)
Reference Rs766518430(C;C)
Significance Probable-Pathogenic
Disease Glutaric aciduria not provided
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1 not provided
Reversed 0
HGVS NC_000019.9:g.13007152C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000169226.1, RCV000480428.1,