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rs1057517466

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517466(-;GC)
Make rs1057517466(GC;GC)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position53197054
GeneCPT2
is asnp
is mentioned by
dbSNPrs1057517466
dbSNP (old)rs1057517466
ClinGenrs1057517466
ebirs1057517466
HLIrs1057517466
Exacrs1057517466
Gnomadrs1057517466
Varsomers1057517466
Maprs1057517466
PheGenIrs1057517466
Biobankrs1057517466
1000 genomesrs1057517466
hgdprs1057517466
ensemblrs1057517466
gopubmedrs1057517466
geneviewrs1057517466
scholarrs1057517466
googlers1057517466
pharmgkbrs1057517466
gwascentralrs1057517466
openSNPrs1057517466
23andMers1057517466
23andMe allrs1057517466
SNPshotrs1057517466
SNPdbers1057517466
MSV3drs1057517466
GWAS Ctlgrs1057517466
Max Magnitude0
ClinVar
Risk rs1057517466(GC;GC)
Alt rs1057517466(GC;GC)
Reference Rs1057517466(-;-)
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.53662725_53662726dupGC
CLNSRC
CLNACC RCV000409793.1, RCV000410888.1, RCV000411956.1,