rs869320737
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869320737(-;A) |
Make rs869320737(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 74145234 |
Gene | BOLA3 |
is a | snp |
is | mentioned by |
dbSNP | rs869320737 |
dbSNP (classic) | rs869320737 |
ClinGen | rs869320737 |
ebi | rs869320737 |
HLI | rs869320737 |
Exac | rs869320737 |
Gnomad | rs869320737 |
Varsome | rs869320737 |
LitVar | rs869320737 |
Map | rs869320737 |
PheGenI | rs869320737 |
Biobank | rs869320737 |
1000 genomes | rs869320737 |
hgdp | rs869320737 |
ensembl | rs869320737 |
geneview | rs869320737 |
scholar | rs869320737 |
rs869320737 | |
pharmgkb | rs869320737 |
gwascentral | rs869320737 |
openSNP | rs869320737 |
23andMe | rs869320737 |
SNPshot | rs869320737 |
SNPdbe | rs869320737 |
MSV3d | rs869320737 |
GWAS Ctlg | rs869320737 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320737(A;A) |
Alt | rs869320737(A;A) |
Reference | Rs869320737(-;-) |
Significance | Pathogenic |
Disease | Multiple mitochondrial dysfunctions syndrome 2 |
Variation | info |
Gene | BOLA3 |
CLNDBN | Multiple mitochondrial dysfunctions syndrome 2 |
Reversed | 1 |
HGVS | NC_000002.11:g.74372362dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024012.3, |