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rs879255657

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255657(C;C)
Make rs879255657(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position55647421
GenePNPT1
is asnp
is mentioned by
dbSNPrs879255657
dbSNP (classic)rs879255657
ClinGenrs879255657
ebirs879255657
HLIrs879255657
Exacrs879255657
Gnomadrs879255657
Varsomers879255657
LitVarrs879255657
Maprs879255657
PheGenIrs879255657
Biobankrs879255657
1000 genomesrs879255657
hgdprs879255657
ensemblrs879255657
geneviewrs879255657
scholarrs879255657
googlers879255657
pharmgkbrs879255657
gwascentralrs879255657
openSNPrs879255657
23andMers879255657
23andMe allrs879255657
SNPshotrs879255657
SNPdbers879255657
MSV3drs879255657
GWAS Ctlgrs879255657
Max Magnitude0
ClinVar
Risk rs879255657(C;C)
Alt rs879255657(C;C)
Reference Rs879255657(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 13
Variation info
Gene PNPT1
CLNDBN Combined oxidative phosphorylation deficiency 13
Reversed 1
HGVS NC_000002.11:g.55874556C>G
CLNSRC
CLNACC RCV000239707.1,