Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTTT;CTTT) 0 common in clinvar
Make rs1057517477(-;-)
Make rs1057517477(-;CTTT)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position53211219
GeneCPT2
is asnp
is mentioned by
dbSNPrs1057517477
dbSNP (classic)rs1057517477
ClinGenrs1057517477
ebirs1057517477
HLIrs1057517477
Exacrs1057517477
Gnomadrs1057517477
Varsomers1057517477
LitVarrs1057517477
Maprs1057517477
PheGenIrs1057517477
Biobankrs1057517477
1000 genomesrs1057517477
hgdprs1057517477
ensemblrs1057517477
geneviewrs1057517477
scholarrs1057517477
googlers1057517477
pharmgkbrs1057517477
gwascentralrs1057517477
openSNPrs1057517477
23andMers1057517477
23andMe allrs1057517477
SNPshotrs1057517477
SNPdbers1057517477
MSV3drs1057517477
GWAS Ctlgrs1057517477
Max Magnitude0
ClinVar
Risk rs1057517477(-;-)
Alt rs1057517477(-;-)
Reference Rs1057517477(CTTT;CTTT)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, lethal neonatal Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced Carnitine palmitoyltransferase II deficiency, infantile
Reversed 0
HGVS NC_000001.10:g.53676891_53676894delCTTT
CLNSRC
CLNACC RCV000409024.1, RCV000409947.1, RCV000411439.1,