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rs778100619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs778100619(A;A)
Make rs778100619(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position55672999
GenePNPT1
is asnp
is mentioned by
dbSNPrs778100619
dbSNP (old)rs778100619
ClinGenrs778100619
ebirs778100619
HLIrs778100619
Exacrs778100619
Gnomadrs778100619
Varsomers778100619
Maprs778100619
PheGenIrs778100619
Biobankrs778100619
1000 genomesrs778100619
hgdprs778100619
ensemblrs778100619
gopubmedrs778100619
geneviewrs778100619
scholarrs778100619
googlers778100619
pharmgkbrs778100619
gwascentralrs778100619
openSNPrs778100619
23andMers778100619
23andMe allrs778100619
SNP Nexus

SNPshotrs778100619
SNPdbers778100619
MSV3drs778100619
GWAS Ctlgrs778100619
Max Magnitude0
ClinVar
Risk rs778100619(A;A) rs778100619(T;T)
Alt rs778100619(A;A) rs778100619(T;T)
Reference Rs778100619(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 13
Variation info
Gene PNPT1
CLNDBN Combined oxidative phosphorylation deficiency 13
Reversed 0
HGVS NC_000002.11:g.55900134G>T
CLNSRC
CLNACC RCV000239625.1,