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rs1057517492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517492(C;T)
Make rs1057517492(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position53211019
GeneCPT2
is asnp
is mentioned by
dbSNPrs1057517492
dbSNP (old)rs1057517492
ClinGenrs1057517492
ebirs1057517492
HLIrs1057517492
Exacrs1057517492
Gnomadrs1057517492
Varsomers1057517492
LitVarrs1057517492
Maprs1057517492
PheGenIrs1057517492
Biobankrs1057517492
1000 genomesrs1057517492
hgdprs1057517492
ensemblrs1057517492
gopubmedrs1057517492
geneviewrs1057517492
scholarrs1057517492
googlers1057517492
pharmgkbrs1057517492
gwascentralrs1057517492
openSNPrs1057517492
23andMers1057517492
23andMe allrs1057517492
SNPshotrs1057517492
SNPdbers1057517492
MSV3drs1057517492
GWAS Ctlgrs1057517492
Max Magnitude0
ClinVar
Risk rs1057517492(T;T)
Alt rs1057517492(T;T)
Reference Rs1057517492(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.53676691C>T
CLNSRC
CLNACC RCV000409596.1, RCV000411103.1, RCV000411620.1,