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rs1057517525

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517525(C;TA)
Make rs1057517525(TA;TA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position53211019
GeneCPT2
is asnp
is mentioned by
dbSNPrs1057517525
dbSNP (old)rs1057517525
ClinGenrs1057517525
ebirs1057517525
HLIrs1057517525
Exacrs1057517525
Gnomadrs1057517525
Varsomers1057517525
Maprs1057517525
PheGenIrs1057517525
Biobankrs1057517525
1000 genomesrs1057517525
hgdprs1057517525
ensemblrs1057517525
gopubmedrs1057517525
geneviewrs1057517525
scholarrs1057517525
googlers1057517525
pharmgkbrs1057517525
gwascentralrs1057517525
openSNPrs1057517525
23andMers1057517525
23andMe allrs1057517525
SNPshotrs1057517525
SNPdbers1057517525
MSV3drs1057517525
GWAS Ctlgrs1057517525
Max Magnitude0
ClinVar
Risk rs1057517525(TA;TA)
Alt rs1057517525(TA;TA)
Reference Rs1057517525(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, myopathic, stress-induced Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency, lethal neonatal
Reversed 0
HGVS NC_000001.10:g.53676691delCinsTA
CLNSRC
CLNACC RCV000409771.1, RCV000410775.1, RCV000412327.1,