rs143030960
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs143030960(C;T) |
Make rs143030960(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 84443366 |
Gene | SUCLG1 |
is a | snp |
is | mentioned by |
dbSNP | rs143030960 |
dbSNP (classic) | rs143030960 |
ClinGen | rs143030960 |
ebi | rs143030960 |
HLI | rs143030960 |
Exac | rs143030960 |
Gnomad | rs143030960 |
Varsome | rs143030960 |
LitVar | rs143030960 |
Map | rs143030960 |
PheGenI | rs143030960 |
Biobank | rs143030960 |
1000 genomes | rs143030960 |
hgdp | rs143030960 |
ensembl | rs143030960 |
geneview | rs143030960 |
scholar | rs143030960 |
rs143030960 | |
pharmgkb | rs143030960 |
gwascentral | rs143030960 |
openSNP | rs143030960 |
23andMe | rs143030960 |
SNPshot | rs143030960 |
SNPdbe | rs143030960 |
MSV3d | rs143030960 |
GWAS Ctlg | rs143030960 |
Max Magnitude | 0 |
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, |