Have questions? Visit https://www.reddit.com/r/SNPedia

rs786204647

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204647(-;-)
Make rs786204647(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position53196981
GeneCPT2
is asnp
is mentioned by
dbSNPrs786204647
ebirs786204647
HLIrs786204647
Exacrs786204647
Varsomers786204647
Maprs786204647
PheGenIrs786204647
hapmaprs786204647
1000 genomesrs786204647
hgdprs786204647
ensemblrs786204647
gopubmedrs786204647
geneviewrs786204647
scholarrs786204647
googlers786204647
pharmgkbrs786204647
gwascentralrs786204647
openSNPrs786204647
23andMers786204647
23andMe allrs786204647
SNP Nexus

SNPshotrs786204647
SNPdbers786204647
MSV3drs786204647
GWAS Ctlgrs786204647
Max Magnitude0
ClinVar
Risk rs786204647(;)
Alt rs786204647(;)
Reference rs786204647(G;G)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, infantile
Reversed 0
HGVS NC_000001.10:g.53662653delG
CLNSRC
CLNACC RCV000169434.1,