rs774791374
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs774791374(-;G) |
Make rs774791374(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 49482759 |
Gene | ERCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs774791374 |
dbSNP (classic) | rs774791374 |
ClinGen | rs774791374 |
ebi | rs774791374 |
HLI | rs774791374 |
Exac | rs774791374 |
Gnomad | rs774791374 |
Varsome | rs774791374 |
LitVar | rs774791374 |
Map | rs774791374 |
PheGenI | rs774791374 |
Biobank | rs774791374 |
1000 genomes | rs774791374 |
hgdp | rs774791374 |
ensembl | rs774791374 |
geneview | rs774791374 |
scholar | rs774791374 |
rs774791374 | |
pharmgkb | rs774791374 |
gwascentral | rs774791374 |
openSNP | rs774791374 |
23andMe | rs774791374 |
SNPshot | rs774791374 |
SNPdbe | rs774791374 |
MSV3d | rs774791374 |
GWAS Ctlg | rs774791374 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774791374(G;G) |
Alt | rs774791374(G;G) |
Reference | Rs774791374(-;-) |
Significance | Probable-Pathogenic |
Disease | Cockayne syndrome B |
Variation | info |
Gene | ERCC6 |
CLNDBN | Cockayne syndrome B |
Reversed | 0 |
HGVS | NC_000010.10:g.50690806dupG |
CLNSRC | |
CLNACC | RCV000170377.1, |