rs767247987
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs767247987(G;T) |
Make rs767247987(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 49483384 |
Gene | ERCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs767247987 |
dbSNP (classic) | rs767247987 |
ClinGen | rs767247987 |
ebi | rs767247987 |
HLI | rs767247987 |
Exac | rs767247987 |
Gnomad | rs767247987 |
Varsome | rs767247987 |
LitVar | rs767247987 |
Map | rs767247987 |
PheGenI | rs767247987 |
Biobank | rs767247987 |
1000 genomes | rs767247987 |
hgdp | rs767247987 |
ensembl | rs767247987 |
geneview | rs767247987 |
scholar | rs767247987 |
rs767247987 | |
pharmgkb | rs767247987 |
gwascentral | rs767247987 |
openSNP | rs767247987 |
23andMe | rs767247987 |
SNPshot | rs767247987 |
SNPdbe | rs767247987 |
MSV3d | rs767247987 |
GWAS Ctlg | rs767247987 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs767247987(A;A) rs767247987(T;T) |
Alt | rs767247987(A;A) rs767247987(T;T) |
Reference | Rs767247987(G;G) |
Significance | Probable-Pathogenic |
Disease | Cockayne syndrome B |
Variation | info |
Gene | ERCC6 |
CLNDBN | Cockayne syndrome B |
Reversed | 0 |
HGVS | NC_000010.10:g.50691430G>A |
CLNSRC | |
CLNACC | RCV000170373.1, |