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rs755395180

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs755395180(A;T)
Make rs755395180(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position53211022
GeneCPT2
is asnp
is mentioned by
dbSNPrs755395180
ebirs755395180
HLIrs755395180
Exacrs755395180
Varsomers755395180
Maprs755395180
PheGenIrs755395180
hapmaprs755395180
1000 genomesrs755395180
hgdprs755395180
ensemblrs755395180
gopubmedrs755395180
geneviewrs755395180
scholarrs755395180
googlers755395180
pharmgkbrs755395180
gwascentralrs755395180
openSNPrs755395180
23andMers755395180
23andMe allrs755395180
SNP Nexus

SNPshotrs755395180
SNPdbers755395180
MSV3drs755395180
GWAS Ctlgrs755395180
Max Magnitude0
ClinVar
Risk rs755395180(T;T)
Alt rs755395180(T;T)
Reference rs755395180(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.53676694A>T
CLNSRC
CLNACC RCV000169371.1,