rs606231176
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs606231176(-;-) |
Make rs606231176(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 5888 |
is a | snp |
is | mentioned by |
dbSNP | rs606231176 |
dbSNP (classic) | rs606231176 |
ClinGen | rs606231176 |
ebi | rs606231176 |
HLI | rs606231176 |
Exac | rs606231176 |
Gnomad | rs606231176 |
Varsome | rs606231176 |
LitVar | rs606231176 |
Map | rs606231176 |
PheGenI | rs606231176 |
Biobank | rs606231176 |
1000 genomes | rs606231176 |
hgdp | rs606231176 |
ensembl | rs606231176 |
geneview | rs606231176 |
scholar | rs606231176 |
rs606231176 | |
pharmgkb | rs606231176 |
gwascentral | rs606231176 |
openSNP | rs606231176 |
23andMe | rs606231176 |
SNPshot | rs606231176 |
SNPdbe | rs606231176 |
MSV3d | rs606231176 |
GWAS Ctlg | rs606231176 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231176(-;-) |
Alt | rs606231176(-;-) |
Reference | Rs606231176(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, |