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rs786204626

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204626(A;A)
Make rs786204626(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position12897825
GeneGCDH, SYCE2
is asnp
is mentioned by
dbSNPrs786204626
dbSNP (classic)rs786204626
ClinGenrs786204626
ebirs786204626
HLIrs786204626
Exacrs786204626
Gnomadrs786204626
Varsomers786204626
LitVarrs786204626
Maprs786204626
PheGenIrs786204626
Biobankrs786204626
1000 genomesrs786204626
hgdprs786204626
ensemblrs786204626
geneviewrs786204626
scholarrs786204626
googlers786204626
pharmgkbrs786204626
gwascentralrs786204626
openSNPrs786204626
23andMers786204626
SNPshotrs786204626
SNPdbers786204626
MSV3drs786204626
GWAS Ctlgrs786204626
Max Magnitude0
ClinVar
Risk rs786204626(A;A)
Alt rs786204626(A;A)
Reference Rs786204626(G;G)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13008639G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000169398.1,