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

rs374698153

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs374698153(C;C)
Make rs374698153(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position55647357
GenePNPT1
is asnp
is mentioned by
dbSNPrs374698153
ebirs374698153
HLIrs374698153
Exacrs374698153
Varsomers374698153
Maprs374698153
PheGenIrs374698153
hapmaprs374698153
1000 genomesrs374698153
hgdprs374698153
ensemblrs374698153
gopubmedrs374698153
geneviewrs374698153
scholarrs374698153
googlers374698153
pharmgkbrs374698153
gwascentralrs374698153
openSNPrs374698153
23andMers374698153
23andMe allrs374698153
SNP Nexus

SNPshotrs374698153
SNPdbers374698153
MSV3drs374698153
GWAS Ctlgrs374698153
Max Magnitude0
ClinVar
Risk rs374698153(C;C)
Alt rs374698153(C;C)
Reference rs374698153(G;G)
Significance Probable-Pathogenic
Disease Combined oxidative phosphorylation deficiency 13
Variation info
Gene PNPT1
CLNDBN Combined oxidative phosphorylation deficiency 13
Reversed 0
HGVS NC_000002.11:g.55874492G>C
CLNSRC Baylor College of Medicine
CLNACC RCV000191120.1,