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rs756931329

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs756931329(A;T)
Make rs756931329(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position53211043
GeneCPT2
is asnp
is mentioned by
dbSNPrs756931329
ebirs756931329
HLIrs756931329
Exacrs756931329
Varsomers756931329
Maprs756931329
PheGenIrs756931329
hapmaprs756931329
1000 genomesrs756931329
hgdprs756931329
ensemblrs756931329
gopubmedrs756931329
geneviewrs756931329
scholarrs756931329
googlers756931329
pharmgkbrs756931329
gwascentralrs756931329
openSNPrs756931329
23andMers756931329
23andMe allrs756931329
SNP Nexus

SNPshotrs756931329
SNPdbers756931329
MSV3drs756931329
GWAS Ctlgrs756931329
Max Magnitude0
ClinVar
Risk rs756931329(G,T;G,T)
Alt rs756931329(G,T;G,T)
Reference rs756931329(A;A)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, infantile
Reversed 0
HGVS NC_000001.10:g.53676715A>T
CLNSRC
CLNACC RCV000169067.1,