Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516396(C;T)
Make rs1057516396(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68793363
GeneCPT1A
is asnp
is mentioned by
dbSNPrs1057516396
dbSNP (old)rs1057516396
ClinGenrs1057516396
ebirs1057516396
HLIrs1057516396
Exacrs1057516396
Gnomadrs1057516396
Varsomers1057516396
Maprs1057516396
PheGenIrs1057516396
Biobankrs1057516396
1000 genomesrs1057516396
hgdprs1057516396
ensemblrs1057516396
gopubmedrs1057516396
geneviewrs1057516396
scholarrs1057516396
googlers1057516396
pharmgkbrs1057516396
gwascentralrs1057516396
openSNPrs1057516396
23andMers1057516396
23andMe allrs1057516396
SNPshotrs1057516396
SNPdbers1057516396
MSV3drs1057516396
GWAS Ctlgrs1057516396
Max Magnitude0
ClinVar
Risk rs1057516396(T;T)
Alt rs1057516396(T;T)
Reference Rs1057516396(C;C)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68560831G>A
CLNSRC
CLNACC RCV000411254.1,