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rs786204627

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204627(A;A)
Make rs786204627(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position12896019
GeneGCDH
is asnp
is mentioned by
dbSNPrs786204627
ebirs786204627
HLIrs786204627
Exacrs786204627
Varsomers786204627
Maprs786204627
PheGenIrs786204627
hapmaprs786204627
1000 genomesrs786204627
hgdprs786204627
ensemblrs786204627
gopubmedrs786204627
geneviewrs786204627
scholarrs786204627
googlers786204627
pharmgkbrs786204627
gwascentralrs786204627
openSNPrs786204627
23andMers786204627
23andMe allrs786204627
SNP Nexus

SNPshotrs786204627
SNPdbers786204627
MSV3drs786204627
GWAS Ctlgrs786204627
Max Magnitude0
ClinVar
Risk rs786204627(A;A)
Alt rs786204627(A;A)
Reference rs786204627(G;G)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13006833G>A
CLNSRC Counsyl
CLNACC RCV000169399.1,