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rs566417795

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a Glutaric aciduria type I mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a Glutaric aciduria type I mutation


Make rs566417795(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12892125
GeneGCDH
is asnp
is mentioned by
dbSNPrs566417795
dbSNP (classic)rs566417795
ClinGenrs566417795
ebirs566417795
HLIrs566417795
Exacrs566417795
Gnomadrs566417795
Varsomers566417795
LitVarrs566417795
Maprs566417795
PheGenIrs566417795
Biobankrs566417795
1000 genomesrs566417795
hgdprs566417795
ensemblrs566417795
geneviewrs566417795
scholarrs566417795
googlers566417795
pharmgkbrs566417795
gwascentralrs566417795
openSNPrs566417795
23andMers566417795
SNPshotrs566417795
SNPdbers566417795
MSV3drs566417795
GWAS Ctlgrs566417795
Max Magnitude3
ClinVar
Risk rs566417795(A;A)
Alt rs566417795(A;A)
Reference Rs566417795(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene GCDH
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.13002939G>A
CLNSRC
CLNACC RCV000485466.1,