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rs112498048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs112498048(C;T)
Make rs112498048(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68793314
GeneCPT1A
is asnp
is mentioned by
dbSNPrs112498048
dbSNP (classic)rs112498048
ClinGenrs112498048
ebirs112498048
HLIrs112498048
Exacrs112498048
Gnomadrs112498048
Varsomers112498048
LitVarrs112498048
Maprs112498048
PheGenIrs112498048
Biobankrs112498048
1000 genomesrs112498048
hgdprs112498048
ensemblrs112498048
geneviewrs112498048
scholarrs112498048
googlers112498048
pharmgkbrs112498048
gwascentralrs112498048
openSNPrs112498048
23andMers112498048
23andMe allrs112498048
SNPshotrs112498048
SNPdbers112498048
MSV3drs112498048
GWAS Ctlgrs112498048
Max Magnitude0
ClinVar
Risk rs112498048(T;T)
Alt rs112498048(T;T)
Reference Rs112498048(C;C)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 0
HGVS NC_000011.9:g.68560782C>T
CLNSRC
CLNACC RCV000412145.1,