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rs149977726

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs149977726(C;C)
Make rs149977726(C;T)
ReferenceGRCh38 38.1/142
Chromosome22
Position50527265
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs149977726
ebirs149977726
HLIrs149977726
Exacrs149977726
Varsomers149977726
Maprs149977726
PheGenIrs149977726
hapmaprs149977726
1000 genomesrs149977726
hgdprs149977726
ensemblrs149977726
gopubmedrs149977726
geneviewrs149977726
scholarrs149977726
googlers149977726
pharmgkbrs149977726
gwascentralrs149977726
openSNPrs149977726
23andMers149977726
23andMe allrs149977726
SNP Nexus

SNPshotrs149977726
SNPdbers149977726
MSV3drs149977726
GWAS Ctlgrs149977726
Max Magnitude0
ClinVar
Risk rs149977726(C;C)
Alt rs149977726(C;C)
Reference rs149977726(T;T)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene TYMP SCO2
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 0
HGVS NC_000022.10:g.50965694T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018136.30,