rs147816470
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147816470(A;A) |
Make rs147816470(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 133352696 |
Gene | SURF1 |
is a | snp |
is | mentioned by |
dbSNP | rs147816470 |
dbSNP (classic) | rs147816470 |
ClinGen | rs147816470 |
ebi | rs147816470 |
HLI | rs147816470 |
Exac | rs147816470 |
Gnomad | rs147816470 |
Varsome | rs147816470 |
LitVar | rs147816470 |
Map | rs147816470 |
PheGenI | rs147816470 |
Biobank | rs147816470 |
1000 genomes | rs147816470 |
hgdp | rs147816470 |
ensembl | rs147816470 |
geneview | rs147816470 |
scholar | rs147816470 |
rs147816470 | |
pharmgkb | rs147816470 |
gwascentral | rs147816470 |
openSNP | rs147816470 |
23andMe | rs147816470 |
SNPshot | rs147816470 |
SNPdbe | rs147816470 |
MSV3d | rs147816470 |
GWAS Ctlg | rs147816470 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147816470(A;A) |
Alt | rs147816470(A;A) |
Reference | Rs147816470(G;G) |
Significance | Pathogenic |
Disease | Leigh syndrome |
Variation | info |
Gene | SURF1 |
CLNDBN | Leigh syndrome |
Reversed | 0 |
HGVS | NC_000009.11:g.136219551G>A |
CLNSRC | |
CLNACC | RCV000235079.1, |