rs118203955
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs118203955(C;T) |
Make rs118203955(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 107210483 |
Gene | PDSS2 |
is a | snp |
is | mentioned by |
dbSNP | rs118203955 |
dbSNP (classic) | rs118203955 |
ClinGen | rs118203955 |
ebi | rs118203955 |
HLI | rs118203955 |
Exac | rs118203955 |
Gnomad | rs118203955 |
Varsome | rs118203955 |
LitVar | rs118203955 |
Map | rs118203955 |
PheGenI | rs118203955 |
Biobank | rs118203955 |
1000 genomes | rs118203955 |
hgdp | rs118203955 |
ensembl | rs118203955 |
geneview | rs118203955 |
scholar | rs118203955 |
rs118203955 | |
pharmgkb | rs118203955 |
gwascentral | rs118203955 |
openSNP | rs118203955 |
23andMe | rs118203955 |
SNPshot | rs118203955 |
SNPdbe | rs118203955 |
MSV3d | rs118203955 |
GWAS Ctlg | rs118203955 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203955(G;G) rs118203955(T;T) |
Alt | rs118203955(G;G) rs118203955(T;T) |
Reference | Rs118203955(C;C) |
Significance | Pathogenic |
Disease | Coenzyme Q10 deficiency |
Variation | info |
Gene | PDSS2 |
CLNDBN | Coenzyme Q10 deficiency, primary, 3 |
Reversed | 1 |
HGVS | NC_000006.11:g.107531687G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001259.3, |