rs121434453
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121434453(C;C) |
Make rs121434453(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 14709 |
is a | snp |
is | mentioned by |
dbSNP | rs121434453 |
dbSNP (classic) | rs121434453 |
ClinGen | rs121434453 |
ebi | rs121434453 |
HLI | rs121434453 |
Exac | rs121434453 |
Gnomad | rs121434453 |
Varsome | rs121434453 |
LitVar | rs121434453 |
Map | rs121434453 |
PheGenI | rs121434453 |
Biobank | rs121434453 |
1000 genomes | rs121434453 |
hgdp | rs121434453 |
ensembl | rs121434453 |
geneview | rs121434453 |
scholar | rs121434453 |
rs121434453 | |
pharmgkb | rs121434453 |
gwascentral | rs121434453 |
openSNP | rs121434453 |
23andMe | rs121434453 |
SNPshot | rs121434453 |
SNPdbe | rs121434453 |
MSV3d | rs121434453 |
GWAS Ctlg | rs121434453 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434453(C;C) |
Alt | rs121434453(C;C) |
Reference | Rs121434453(T;T) |
Significance | Pathogenic |
Disease | Myopathy Diabetes-deafness syndrome maternally transmitted |
Variation | info |
Gene | |
CLNDBN | Myopathy, mitochondrial, with diabetes mellitus Diabetes-deafness syndrome maternally transmitted |
Reversed | 0 |
HGVS | NC_012920.1:m.14709T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010241.2, RCV000032996.4, |