rs765825423
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs765825423(-;-) |
Make rs765825423(-;CT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 49461382 |
Gene | ERCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs765825423 |
dbSNP (classic) | rs765825423 |
ClinGen | rs765825423 |
ebi | rs765825423 |
HLI | rs765825423 |
Exac | rs765825423 |
Gnomad | rs765825423 |
Varsome | rs765825423 |
LitVar | rs765825423 |
Map | rs765825423 |
PheGenI | rs765825423 |
Biobank | rs765825423 |
1000 genomes | rs765825423 |
hgdp | rs765825423 |
ensembl | rs765825423 |
geneview | rs765825423 |
scholar | rs765825423 |
rs765825423 | |
pharmgkb | rs765825423 |
gwascentral | rs765825423 |
openSNP | rs765825423 |
23andMe | rs765825423 |
SNPshot | rs765825423 |
SNPdbe | rs765825423 |
MSV3d | rs765825423 |
GWAS Ctlg | rs765825423 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765825423(-;-) |
Alt | rs765825423(-;-) |
Reference | Rs765825423(CT;CT) |
Significance | Probable-Pathogenic |
Disease | Cockayne syndrome B |
Variation | info |
Gene | ERCC6 |
CLNDBN | Cockayne syndrome B |
Reversed | 0 |
HGVS | NC_000010.10:g.50669428_50669429delCT |
CLNSRC | |
CLNACC | RCV000170390.1, |