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

rs1057517493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517493(-;-)
Make rs1057517493(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position53197018
GeneCPT2
is asnp
is mentioned by
dbSNPrs1057517493
dbSNP (old)rs1057517493
ClinGenrs1057517493
ebirs1057517493
HLIrs1057517493
Exacrs1057517493
Gnomadrs1057517493
Varsomers1057517493
LitVarrs1057517493
Maprs1057517493
PheGenIrs1057517493
Biobankrs1057517493
1000 genomesrs1057517493
hgdprs1057517493
ensemblrs1057517493
gopubmedrs1057517493
geneviewrs1057517493
scholarrs1057517493
googlers1057517493
pharmgkbrs1057517493
gwascentralrs1057517493
openSNPrs1057517493
23andMers1057517493
23andMe allrs1057517493
SNPshotrs1057517493
SNPdbers1057517493
MSV3drs1057517493
GWAS Ctlgrs1057517493
Max Magnitude0
ClinVar
Risk rs1057517493(-;-)
Alt rs1057517493(-;-)
Reference Rs1057517493(C;C)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency, lethal neonatal Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
Reversed 0
HGVS NC_000001.10:g.53662690delC
CLNSRC
CLNACC RCV000409757.1, RCV000410873.1, RCV000412215.1,