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rs201065226

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201065226(C;T)
Make rs201065226(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position53210044
GeneCPT2
is asnp
is mentioned by
dbSNPrs201065226
dbSNP (old)rs201065226
ClinGenrs201065226
ebirs201065226
HLIrs201065226
Exacrs201065226
Gnomadrs201065226
Varsomers201065226
Maprs201065226
PheGenIrs201065226
Biobankrs201065226
1000 genomesrs201065226
hgdprs201065226
ensemblrs201065226
gopubmedrs201065226
geneviewrs201065226
scholarrs201065226
googlers201065226
pharmgkbrs201065226
gwascentralrs201065226
openSNPrs201065226
23andMers201065226
23andMe allrs201065226
SNP Nexus

SNPshotrs201065226
SNPdbers201065226
MSV3drs201065226
GWAS Ctlgrs201065226
Max Magnitude0
ClinVar
Risk rs201065226(T;T)
Alt rs201065226(T;T)
Reference Rs201065226(C;C)
Significance Pathogenic
Disease not provided Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN not provided Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency, lethal neonatal Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
Reversed 0
HGVS NC_000001.10:g.53675716C>T
CLNSRC
CLNACC RCV000185829.2, RCV000409811.1, RCV000410924.1, RCV000411770.1,