rs118203887
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs118203887(A;A) |
Make rs118203887(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 622 |
is a | snp |
is | mentioned by |
dbSNP | rs118203887 |
dbSNP (classic) | rs118203887 |
ClinGen | rs118203887 |
ebi | rs118203887 |
HLI | rs118203887 |
Exac | rs118203887 |
Gnomad | rs118203887 |
Varsome | rs118203887 |
LitVar | rs118203887 |
Map | rs118203887 |
PheGenI | rs118203887 |
Biobank | rs118203887 |
1000 genomes | rs118203887 |
hgdp | rs118203887 |
ensembl | rs118203887 |
geneview | rs118203887 |
scholar | rs118203887 |
rs118203887 | |
pharmgkb | rs118203887 |
gwascentral | rs118203887 |
openSNP | rs118203887 |
23andMe | rs118203887 |
SNPshot | rs118203887 |
SNPdbe | rs118203887 |
MSV3d | rs118203887 |
GWAS Ctlg | rs118203887 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203887(A;A) |
Alt | rs118203887(A;A) |
Reference | Rs118203887(G;G) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | |
CLNDBN | Myopathy, mitochondrial, late-onset |
Reversed | 0 |
HGVS | NC_012920.1:m.622G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010188.3, |