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rs786204427

From SNPedia

Orientationplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs786204427(CA;GG)
Make rs786204427(GG;GG)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position40411257
GeneIVD
is asnp
is mentioned by
dbSNPrs786204427
ebirs786204427
HLIrs786204427
Exacrs786204427
Varsomers786204427
Maprs786204427
PheGenIrs786204427
hapmaprs786204427
1000 genomesrs786204427
hgdprs786204427
ensemblrs786204427
gopubmedrs786204427
geneviewrs786204427
scholarrs786204427
googlers786204427
pharmgkbrs786204427
gwascentralrs786204427
openSNPrs786204427
23andMers786204427
23andMe allrs786204427
SNP Nexus

SNPshotrs786204427
SNPdbers786204427
MSV3drs786204427
GWAS Ctlgrs786204427
Max Magnitude0
ClinVar
Risk rs786204427(GG;GG)
Alt rs786204427(GG;GG)
Reference rs786204427(CA;CA)
Significance Probable-Pathogenic
Disease Isovaleryl-CoA dehydrogenase deficiency
Variation info
Gene IVD
CLNDBN Isovaleryl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000015.9:g.40703456_40703457delCAinsGG
CLNSRC
CLNACC RCV000169022.1,