rs118203892
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs118203892(-;-) |
Make rs118203892(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 5885 |
is a | snp |
is | mentioned by |
dbSNP | rs118203892 |
dbSNP (classic) | rs118203892 |
ClinGen | rs118203892 |
ebi | rs118203892 |
HLI | rs118203892 |
Exac | rs118203892 |
Gnomad | rs118203892 |
Varsome | rs118203892 |
LitVar | rs118203892 |
Map | rs118203892 |
PheGenI | rs118203892 |
Biobank | rs118203892 |
1000 genomes | rs118203892 |
hgdp | rs118203892 |
ensembl | rs118203892 |
geneview | rs118203892 |
scholar | rs118203892 |
rs118203892 | |
pharmgkb | rs118203892 |
gwascentral | rs118203892 |
openSNP | rs118203892 |
23andMe | rs118203892 |
SNPshot | rs118203892 |
SNPdbe | rs118203892 |
MSV3d | rs118203892 |
GWAS Ctlg | rs118203892 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203892(-;-) |
Alt | rs118203892(-;-) |
Reference | Rs118203892(T;T) |
Significance | Pathogenic |
Disease | Kearns Sayre syndrome |
Variation | info |
Gene | |
CLNDBN | Kearns Sayre syndrome |
Reversed | 0 |
HGVS | NC_012920.1:m.5888delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010160.4, |