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rs1057517507

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs1057517507(-;-)
Make rs1057517507(-;AGAA)
Make rs1057517507(AGAA;AGAA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position53211033
GeneCPT2
is asnp
is mentioned by
dbSNPrs1057517507
dbSNP (old)rs1057517507
ClinGenrs1057517507
ebirs1057517507
HLIrs1057517507
Exacrs1057517507
Gnomadrs1057517507
Varsomers1057517507
LitVarrs1057517507
Maprs1057517507
PheGenIrs1057517507
Biobankrs1057517507
1000 genomesrs1057517507
hgdprs1057517507
ensemblrs1057517507
gopubmedrs1057517507
geneviewrs1057517507
scholarrs1057517507
googlers1057517507
pharmgkbrs1057517507
gwascentralrs1057517507
openSNPrs1057517507
23andMers1057517507
23andMe allrs1057517507
SNPshotrs1057517507
SNPdbers1057517507
MSV3drs1057517507
GWAS Ctlgrs1057517507
Max Magnitude0
ClinVar
Risk rs1057517507(-;-)
Alt rs1057517507(-;-)
Reference Rs1057517507(AAAG;AAAG)
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.53676705_53676708delAGAA
CLNSRC
CLNACC RCV000409126.1, RCV000410673.1, RCV000411622.1,