Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517245

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517245(A;G)
Make rs1057517245(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68794913
GeneCPT1A
is asnp
is mentioned by
dbSNPrs1057517245
dbSNP (old)rs1057517245
ClinGenrs1057517245
ebirs1057517245
HLIrs1057517245
Exacrs1057517245
Gnomadrs1057517245
Varsomers1057517245
Maprs1057517245
PheGenIrs1057517245
Biobankrs1057517245
1000 genomesrs1057517245
hgdprs1057517245
ensemblrs1057517245
gopubmedrs1057517245
geneviewrs1057517245
scholarrs1057517245
googlers1057517245
pharmgkbrs1057517245
gwascentralrs1057517245
openSNPrs1057517245
23andMers1057517245
23andMe allrs1057517245
SNPshotrs1057517245
SNPdbers1057517245
MSV3drs1057517245
GWAS Ctlgrs1057517245
Max Magnitude0
ClinVar
Risk rs1057517245(G;G)
Alt rs1057517245(G;G)
Reference Rs1057517245(A;A)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68562381T>C
CLNSRC
CLNACC RCV000409488.1,