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rs143030960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs143030960(C;T)
Make rs143030960(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position84443366
GeneSUCLG1
is asnp
is mentioned by
dbSNPrs143030960
dbSNP (classic)rs143030960
ClinGenrs143030960
ebirs143030960
HLIrs143030960
Exacrs143030960
Gnomadrs143030960
Varsomers143030960
LitVarrs143030960
Maprs143030960
PheGenIrs143030960
Biobankrs143030960
1000 genomesrs143030960
hgdprs143030960
ensemblrs143030960
geneviewrs143030960
scholarrs143030960
googlers143030960
pharmgkbrs143030960
gwascentralrs143030960
openSNPrs143030960
23andMers143030960
SNPshotrs143030960
SNPdbers143030960
MSV3drs143030960
GWAS Ctlgrs143030960
Max Magnitude0
ClinVar
Risk rs143030960(T;T)
Alt rs143030960(T;T)
Reference Rs143030960(C;C)
Significance Probable-Pathogenic
Disease not specified Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) not provided
Variation info
Gene SUCLG1
CLNDBN not specified Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) not provided
Reversed 0
HGVS NC_000002.11:g.84670490C>T
CLNSRC
CLNACC RCV000239306.1, RCV000369613.1, RCV000390394.1, RCV000428598.1,