rs786205173
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786205173(-;T) |
Make rs786205173(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 49470347 |
Gene | ERCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs786205173 |
dbSNP (classic) | rs786205173 |
ClinGen | rs786205173 |
ebi | rs786205173 |
HLI | rs786205173 |
Exac | rs786205173 |
Gnomad | rs786205173 |
Varsome | rs786205173 |
LitVar | rs786205173 |
Map | rs786205173 |
PheGenI | rs786205173 |
Biobank | rs786205173 |
1000 genomes | rs786205173 |
hgdp | rs786205173 |
ensembl | rs786205173 |
geneview | rs786205173 |
scholar | rs786205173 |
rs786205173 | |
pharmgkb | rs786205173 |
gwascentral | rs786205173 |
openSNP | rs786205173 |
23andMe | rs786205173 |
SNPshot | rs786205173 |
SNPdbe | rs786205173 |
MSV3d | rs786205173 |
GWAS Ctlg | rs786205173 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205173(T;T) |
Alt | rs786205173(T;T) |
Reference | Rs786205173(-;-) |
Significance | Probable-Pathogenic |
Disease | Cockayne syndrome B |
Variation | info |
Gene | ERCC6 |
CLNDBN | Cockayne syndrome B |
Reversed | 1 |
HGVS | NC_000010.10:g.50678393_50678394insA |
CLNSRC | |
CLNACC | RCV000170388.1, |