rs863224228
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCTGCCAGCC;TCTGCCAGCC) | 0 | common in clinvar |
Make rs863224228(AT;AT) |
Make rs863224228(AT;TCTGCCAGCC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 133354661 |
Gene | SURF1, SURF2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224228 |
dbSNP (classic) | rs863224228 |
ClinGen | rs863224228 |
ebi | rs863224228 |
HLI | rs863224228 |
Exac | rs863224228 |
Gnomad | rs863224228 |
Varsome | rs863224228 |
LitVar | rs863224228 |
Map | rs863224228 |
PheGenI | rs863224228 |
Biobank | rs863224228 |
1000 genomes | rs863224228 |
hgdp | rs863224228 |
ensembl | rs863224228 |
geneview | rs863224228 |
scholar | rs863224228 |
rs863224228 | |
pharmgkb | rs863224228 |
gwascentral | rs863224228 |
openSNP | rs863224228 |
23andMe | rs863224228 |
SNPshot | rs863224228 |
SNPdbe | rs863224228 |
MSV3d | rs863224228 |
GWAS Ctlg | rs863224228 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224228(AT;AT) |
Alt | rs863224228(AT;AT) |
Reference | Rs863224228(TCTGCCAGCC;TCTGCCAGCC) |
Significance | Pathogenic |
Disease | not provided Leigh syndrome |
Variation | info |
Gene | SURF2 SURF1 |
CLNDBN | not provided Leigh syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.136221516_136221525delGGCTGGCAGAinsAT |
CLNSRC | |
CLNACC | RCV000197023.3, RCV000235063.1, |