rs782007828
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs782007828(-;-) |
Make rs782007828(-;CT) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 133352139 |
Gene | SURF1 |
is a | snp |
is | mentioned by |
dbSNP | rs782007828 |
dbSNP (classic) | rs782007828 |
ClinGen | rs782007828 |
ebi | rs782007828 |
HLI | rs782007828 |
Exac | rs782007828 |
Gnomad | rs782007828 |
Varsome | rs782007828 |
LitVar | rs782007828 |
Map | rs782007828 |
PheGenI | rs782007828 |
Biobank | rs782007828 |
1000 genomes | rs782007828 |
hgdp | rs782007828 |
ensembl | rs782007828 |
geneview | rs782007828 |
scholar | rs782007828 |
rs782007828 | |
pharmgkb | rs782007828 |
gwascentral | rs782007828 |
openSNP | rs782007828 |
23andMe | rs782007828 |
SNPshot | rs782007828 |
SNPdbe | rs782007828 |
MSV3d | rs782007828 |
GWAS Ctlg | rs782007828 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782007828(-;-) |
Alt | rs782007828(-;-) |
Reference | Rs782007828(CT;CT) |
Significance | Probable-Pathogenic |
Disease | Leigh syndrome |
Variation | info |
Gene | SURF1 |
CLNDBN | Leigh syndrome |
Reversed | 0 |
HGVS | NC_000009.11:g.136218994_136218995delCT |
CLNSRC | Illumina |
CLNACC | RCV000312508.1, |