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rs767245071

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs767245071(C;G)
Make rs767245071(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position50529339
GeneTYMP
is asnp
is mentioned by
dbSNPrs767245071
ebirs767245071
HLIrs767245071
Exacrs767245071
Varsomers767245071
Maprs767245071
PheGenIrs767245071
hapmaprs767245071
1000 genomesrs767245071
hgdprs767245071
ensemblrs767245071
gopubmedrs767245071
geneviewrs767245071
scholarrs767245071
googlers767245071
pharmgkbrs767245071
gwascentralrs767245071
openSNPrs767245071
23andMers767245071
23andMe allrs767245071
SNP Nexus

SNPshotrs767245071
SNPdbers767245071
MSV3drs767245071
GWAS Ctlgrs767245071
Max Magnitude0
ClinVar
Risk rs767245071(G;G)
Alt rs767245071(G;G)
Reference rs767245071(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene TYMP
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 0
HGVS NC_000022.10:g.50967768C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018142.28,