rs786205176
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205176(-;-) |
Make rs786205176(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 60928896 |
Gene | ERCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs786205176 |
dbSNP (classic) | rs786205176 |
ClinGen | rs786205176 |
ebi | rs786205176 |
HLI | rs786205176 |
Exac | rs786205176 |
Gnomad | rs786205176 |
Varsome | rs786205176 |
LitVar | rs786205176 |
Map | rs786205176 |
PheGenI | rs786205176 |
Biobank | rs786205176 |
1000 genomes | rs786205176 |
hgdp | rs786205176 |
ensembl | rs786205176 |
geneview | rs786205176 |
scholar | rs786205176 |
rs786205176 | |
pharmgkb | rs786205176 |
gwascentral | rs786205176 |
openSNP | rs786205176 |
23andMe | rs786205176 |
SNPshot | rs786205176 |
SNPdbe | rs786205176 |
MSV3d | rs786205176 |
GWAS Ctlg | rs786205176 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205176(-;-) |
Alt | rs786205176(-;-) |
Reference | Rs786205176(C;C) |
Significance | Pathogenic |
Disease | Cockayne syndrome type A |
Variation | info |
Gene | ERCC8 |
CLNDBN | Cockayne syndrome type A |
Reversed | 1 |
HGVS | NC_000005.9:g.60224723delG |
CLNSRC | |
CLNACC | RCV000170394.1, |