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

rs1057517409

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517409(C;C)
Make rs1057517409(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68799217
GeneCPT1A
is asnp
is mentioned by
dbSNPrs1057517409
dbSNP (old)rs1057517409
ClinGenrs1057517409
ebirs1057517409
HLIrs1057517409
Exacrs1057517409
Gnomadrs1057517409
Varsomers1057517409
Maprs1057517409
PheGenIrs1057517409
Biobankrs1057517409
1000 genomesrs1057517409
hgdprs1057517409
ensemblrs1057517409
gopubmedrs1057517409
geneviewrs1057517409
scholarrs1057517409
googlers1057517409
pharmgkbrs1057517409
gwascentralrs1057517409
openSNPrs1057517409
23andMers1057517409
23andMe allrs1057517409
SNPshotrs1057517409
SNPdbers1057517409
MSV3drs1057517409
GWAS Ctlgrs1057517409
Max Magnitude0
ClinVar
Risk rs1057517409(C;C)
Alt rs1057517409(C;C)
Reference Rs1057517409(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.68566685C>G
CLNSRC
CLNACC RCV000409157.1,