rs121434462
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121434462(A;A) |
Make rs121434462(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 12315 |
is a | snp |
is | mentioned by |
dbSNP | rs121434462 |
dbSNP (classic) | rs121434462 |
ClinGen | rs121434462 |
ebi | rs121434462 |
HLI | rs121434462 |
Exac | rs121434462 |
Gnomad | rs121434462 |
Varsome | rs121434462 |
LitVar | rs121434462 |
Map | rs121434462 |
PheGenI | rs121434462 |
Biobank | rs121434462 |
1000 genomes | rs121434462 |
hgdp | rs121434462 |
ensembl | rs121434462 |
geneview | rs121434462 |
scholar | rs121434462 |
rs121434462 | |
pharmgkb | rs121434462 |
gwascentral | rs121434462 |
openSNP | rs121434462 |
23andMe | rs121434462 |
SNPshot | rs121434462 |
SNPdbe | rs121434462 |
MSV3d | rs121434462 |
GWAS Ctlg | rs121434462 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434462(A;A) |
Alt | rs121434462(A;A) |
Reference | Rs121434462(G;G) |
Significance | Pathogenic |
Disease | Mitochondrial encephalomyopathy |
Variation | info |
Gene | |
CLNDBN | Mitochondrial encephalomyopathy |
Reversed | 0 |
HGVS | NC_012920.1:m.12315G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010203.4, |