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rs1057517188

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517188(A;A)
Make rs1057517188(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68807639
GeneCPT1A
is asnp
is mentioned by
dbSNPrs1057517188
dbSNP (old)rs1057517188
ClinGenrs1057517188
ebirs1057517188
HLIrs1057517188
Exacrs1057517188
Gnomadrs1057517188
Varsomers1057517188
Maprs1057517188
PheGenIrs1057517188
Biobankrs1057517188
1000 genomesrs1057517188
hgdprs1057517188
ensemblrs1057517188
gopubmedrs1057517188
geneviewrs1057517188
scholarrs1057517188
googlers1057517188
pharmgkbrs1057517188
gwascentralrs1057517188
openSNPrs1057517188
23andMers1057517188
23andMe allrs1057517188
SNPshotrs1057517188
SNPdbers1057517188
MSV3drs1057517188
GWAS Ctlgrs1057517188
Max Magnitude0
ClinVar
Risk rs1057517188(A;A)
Alt rs1057517188(A;A)
Reference Rs1057517188(G;G)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68575107C>T
CLNSRC
CLNACC RCV000412419.1,