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rs753776604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs753776604(-;-)
Make rs753776604(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68780712
GeneCPT1A
is asnp
is mentioned by
dbSNPrs753776604
dbSNP (classic)rs753776604
ClinGenrs753776604
ebirs753776604
HLIrs753776604
Exacrs753776604
Gnomadrs753776604
Varsomers753776604
LitVarrs753776604
Maprs753776604
PheGenIrs753776604
Biobankrs753776604
1000 genomesrs753776604
hgdprs753776604
ensemblrs753776604
geneviewrs753776604
scholarrs753776604
googlers753776604
pharmgkbrs753776604
gwascentralrs753776604
openSNPrs753776604
23andMers753776604
23andMe allrs753776604
SNPshotrs753776604
SNPdbers753776604
MSV3drs753776604
GWAS Ctlgrs753776604
Max Magnitude0
ClinVar
Risk rs753776604(-;-)
Alt rs753776604(-;-)
Reference Rs753776604(G;G)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 0
HGVS NC_000011.9:g.68548180delG
CLNSRC
CLNACC RCV000410594.1,