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rs146571352

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs146571352(C;T)
Make rs146571352(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position55647424
GenePNPT1
is asnp
is mentioned by
dbSNPrs146571352
ClinGenrs146571352
ebirs146571352
HLIrs146571352
Exacrs146571352
Varsomers146571352
Maprs146571352
PheGenIrs146571352
hapmaprs146571352
1000 genomesrs146571352
hgdprs146571352
ensemblrs146571352
gopubmedrs146571352
geneviewrs146571352
scholarrs146571352
googlers146571352
pharmgkbrs146571352
gwascentralrs146571352
openSNPrs146571352
23andMers146571352
23andMe allrs146571352
SNP Nexus

SNPshotrs146571352
SNPdbers146571352
MSV3drs146571352
GWAS Ctlgrs146571352
Max Magnitude0
ClinVar
Risk rs146571352(T;T)
Alt rs146571352(T;T)
Reference Rs146571352(C;C)
Significance Probable-Pathogenic
Disease Combined oxidative phosphorylation deficiency 13 not specified
Variation info
Gene PNPT1
CLNDBN Combined oxidative phosphorylation deficiency 13 not specified
Reversed 0
HGVS NC_000002.11:g.55874559C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191121.1, RCV000196452.3,