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rs786204639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204639(A;A)
Make rs786204639(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position12891975
GeneGCDH
is asnp
is mentioned by
dbSNPrs786204639
dbSNP (classic)rs786204639
ClinGenrs786204639
ebirs786204639
HLIrs786204639
Exacrs786204639
Gnomadrs786204639
Varsomers786204639
LitVarrs786204639
Maprs786204639
PheGenIrs786204639
Biobankrs786204639
1000 genomesrs786204639
hgdprs786204639
ensemblrs786204639
geneviewrs786204639
scholarrs786204639
googlers786204639
pharmgkbrs786204639
gwascentralrs786204639
openSNPrs786204639
23andMers786204639
SNPshotrs786204639
SNPdbers786204639
MSV3drs786204639
GWAS Ctlgrs786204639
Max Magnitude0
ClinVar
Risk rs786204639(A;A)
Alt rs786204639(A;A)
Reference Rs786204639(G;G)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13002789G>A
CLNSRC Counsyl
CLNACC RCV000169420.1,