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rs764275775

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs764275775(C;G)
Make rs764275775(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50525859
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs764275775
dbSNP (classic)rs764275775
ClinGenrs764275775
ebirs764275775
HLIrs764275775
Exacrs764275775
Gnomadrs764275775
Varsomers764275775
LitVarrs764275775
Maprs764275775
PheGenIrs764275775
Biobankrs764275775
1000 genomesrs764275775
hgdprs764275775
ensemblrs764275775
geneviewrs764275775
scholarrs764275775
googlers764275775
pharmgkbrs764275775
gwascentralrs764275775
openSNPrs764275775
23andMers764275775
23andMe allrs764275775
SNPshotrs764275775
SNPdbers764275775
MSV3drs764275775
GWAS Ctlgrs764275775
Max Magnitude0
ClinVar
Risk rs764275775(A;A) rs764275775(G;G)
Alt rs764275775(A;A) rs764275775(G;G)
Reference Rs764275775(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene SCO2 TYMP
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 0
HGVS NC_000022.10:g.50964288C>G
CLNSRC
CLNACC RCV000208684.1,