rs786205166
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786205166(-;T) |
Make rs786205166(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 49524149 |
Gene | ERCC6, PGBD3 |
is a | snp |
is | mentioned by |
dbSNP | rs786205166 |
dbSNP (classic) | rs786205166 |
ClinGen | rs786205166 |
ebi | rs786205166 |
HLI | rs786205166 |
Exac | rs786205166 |
Gnomad | rs786205166 |
Varsome | rs786205166 |
LitVar | rs786205166 |
Map | rs786205166 |
PheGenI | rs786205166 |
Biobank | rs786205166 |
1000 genomes | rs786205166 |
hgdp | rs786205166 |
ensembl | rs786205166 |
geneview | rs786205166 |
scholar | rs786205166 |
rs786205166 | |
pharmgkb | rs786205166 |
gwascentral | rs786205166 |
openSNP | rs786205166 |
23andMe | rs786205166 |
SNPshot | rs786205166 |
SNPdbe | rs786205166 |
MSV3d | rs786205166 |
GWAS Ctlg | rs786205166 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205166(T;T) |
Alt | rs786205166(T;T) |
Reference | Rs786205166(-;-) |
Significance | Pathogenic |
Disease | Cockayne syndrome B |
Variation | info |
Gene | ERCC6 PGBD3 |
CLNDBN | Cockayne syndrome B |
Reversed | 1 |
HGVS | NC_000010.10:g.50732196dupA |
CLNSRC | |
CLNACC | RCV000170364.1, |