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rs1057517494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517494(-;-)
Make rs1057517494(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position53197038
GeneCPT2
is asnp
is mentioned by
dbSNPrs1057517494
dbSNP (old)rs1057517494
ClinGenrs1057517494
ebirs1057517494
HLIrs1057517494
Exacrs1057517494
Gnomadrs1057517494
Varsomers1057517494
LitVarrs1057517494
Maprs1057517494
PheGenIrs1057517494
Biobankrs1057517494
1000 genomesrs1057517494
hgdprs1057517494
ensemblrs1057517494
gopubmedrs1057517494
geneviewrs1057517494
scholarrs1057517494
googlers1057517494
pharmgkbrs1057517494
gwascentralrs1057517494
openSNPrs1057517494
23andMers1057517494
23andMe allrs1057517494
SNPshotrs1057517494
SNPdbers1057517494
MSV3drs1057517494
GWAS Ctlgrs1057517494
Max Magnitude0
ClinVar
Risk rs1057517494(-;-)
Alt rs1057517494(-;-)
Reference Rs1057517494(G;G)
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, lethal neonatal Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced Carnitine palmitoyltransferase II deficiency, infantile
Reversed 0
HGVS NC_000001.10:g.53662710delG
CLNSRC
CLNACC RCV000409193.1, RCV000410121.1, RCV000411223.1,