rs797045562
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045562(-;T) |
Make rs797045562(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 49524579 |
Gene | ERCC6, PGBD3 |
is a | snp |
is | mentioned by |
dbSNP | rs797045562 |
dbSNP (classic) | rs797045562 |
ClinGen | rs797045562 |
ebi | rs797045562 |
HLI | rs797045562 |
Exac | rs797045562 |
Gnomad | rs797045562 |
Varsome | rs797045562 |
LitVar | rs797045562 |
Map | rs797045562 |
PheGenI | rs797045562 |
Biobank | rs797045562 |
1000 genomes | rs797045562 |
hgdp | rs797045562 |
ensembl | rs797045562 |
geneview | rs797045562 |
scholar | rs797045562 |
rs797045562 | |
pharmgkb | rs797045562 |
gwascentral | rs797045562 |
openSNP | rs797045562 |
23andMe | rs797045562 |
SNPshot | rs797045562 |
SNPdbe | rs797045562 |
MSV3d | rs797045562 |
GWAS Ctlg | rs797045562 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045562(T;T) |
Alt | rs797045562(T;T) |
Reference | Rs797045562(-;-) |
Significance | Pathogenic |
Disease | Cockayne syndrome B |
Variation | info |
Gene | ERCC6 PGBD3 |
CLNDBN | Cockayne syndrome B |
Reversed | 1 |
HGVS | NC_000010.10:g.50732625_50732626insA |
CLNSRC | |
CLNACC | RCV000194098.1, |