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rs765161206

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs765161206(A;A)
Make rs765161206(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68760296
GeneCPT1A
is asnp
is mentioned by
dbSNPrs765161206
dbSNP (classic)rs765161206
ClinGenrs765161206
ebirs765161206
HLIrs765161206
Exacrs765161206
Gnomadrs765161206
Varsomers765161206
LitVarrs765161206
Maprs765161206
PheGenIrs765161206
Biobankrs765161206
1000 genomesrs765161206
hgdprs765161206
ensemblrs765161206
geneviewrs765161206
scholarrs765161206
googlers765161206
pharmgkbrs765161206
gwascentralrs765161206
openSNPrs765161206
23andMers765161206
SNPshotrs765161206
SNPdbers765161206
MSV3drs765161206
GWAS Ctlgrs765161206
Max Magnitude0
ClinVar
Risk rs765161206(A;A)
Alt rs765161206(A;A)
Reference Rs765161206(G;G)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 0
HGVS NC_000011.9:g.68527764G>A
CLNSRC
CLNACC RCV000409477.1,