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rs1057517473

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517473(G;G)
Make rs1057517473(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position53211321
GeneCPT2
is asnp
is mentioned by
dbSNPrs1057517473
dbSNP (old)rs1057517473
ClinGenrs1057517473
ebirs1057517473
HLIrs1057517473
Exacrs1057517473
Gnomadrs1057517473
Varsomers1057517473
Maprs1057517473
PheGenIrs1057517473
Biobankrs1057517473
1000 genomesrs1057517473
hgdprs1057517473
ensemblrs1057517473
gopubmedrs1057517473
geneviewrs1057517473
scholarrs1057517473
googlers1057517473
pharmgkbrs1057517473
gwascentralrs1057517473
openSNPrs1057517473
23andMers1057517473
23andMe allrs1057517473
SNPshotrs1057517473
SNPdbers1057517473
MSV3drs1057517473
GWAS Ctlgrs1057517473
Max Magnitude0
ClinVar
Risk rs1057517473(G;G)
Alt rs1057517473(G;G)
Reference Rs1057517473(T;T)
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.53676993T>G
CLNSRC
CLNACC RCV000409646.1, RCV000410325.1, RCV000411662.1,