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rs1057517515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517515(-;A)
Make rs1057517515(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position53210720
GeneCPT2
is asnp
is mentioned by
dbSNPrs1057517515
dbSNP (old)rs1057517515
ClinGenrs1057517515
ebirs1057517515
HLIrs1057517515
Exacrs1057517515
Gnomadrs1057517515
Varsomers1057517515
LitVarrs1057517515
Maprs1057517515
PheGenIrs1057517515
Biobankrs1057517515
1000 genomesrs1057517515
hgdprs1057517515
ensemblrs1057517515
gopubmedrs1057517515
geneviewrs1057517515
scholarrs1057517515
googlers1057517515
pharmgkbrs1057517515
gwascentralrs1057517515
openSNPrs1057517515
23andMers1057517515
23andMe allrs1057517515
SNPshotrs1057517515
SNPdbers1057517515
MSV3drs1057517515
GWAS Ctlgrs1057517515
Max Magnitude0
ClinVar
Risk rs1057517515(A;A)
Alt rs1057517515(A;A)
Reference Rs1057517515(-;-)
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, myopathic, stress-induced Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency, lethal neonatal
Reversed 0
HGVS NC_000001.10:g.53676392dupA
CLNSRC
CLNACC RCV000409430.1, RCV000410982.1, RCV000412442.1,