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rs1057517517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517517(A;A)
Make rs1057517517(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position53211288
GeneCPT2
is asnp
is mentioned by
dbSNPrs1057517517
dbSNP (old)rs1057517517
ClinGenrs1057517517
ebirs1057517517
HLIrs1057517517
Exacrs1057517517
Gnomadrs1057517517
Varsomers1057517517
LitVarrs1057517517
Maprs1057517517
PheGenIrs1057517517
Biobankrs1057517517
1000 genomesrs1057517517
hgdprs1057517517
ensemblrs1057517517
gopubmedrs1057517517
geneviewrs1057517517
scholarrs1057517517
googlers1057517517
pharmgkbrs1057517517
gwascentralrs1057517517
openSNPrs1057517517
23andMers1057517517
23andMe allrs1057517517
SNPshotrs1057517517
SNPdbers1057517517
MSV3drs1057517517
GWAS Ctlgrs1057517517
Max Magnitude0
ClinVar
Risk rs1057517517(A;A)
Alt rs1057517517(A;A)
Reference Rs1057517517(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.53676960C>A
CLNSRC
CLNACC RCV000409314.1, RCV000410441.1, RCV000411274.1,