rs373227647
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs373227647(C;C) |
Make rs373227647(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 49472472 |
Gene | ERCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs373227647 |
dbSNP (classic) | rs373227647 |
ClinGen | rs373227647 |
ebi | rs373227647 |
HLI | rs373227647 |
Exac | rs373227647 |
Gnomad | rs373227647 |
Varsome | rs373227647 |
LitVar | rs373227647 |
Map | rs373227647 |
PheGenI | rs373227647 |
Biobank | rs373227647 |
1000 genomes | rs373227647 |
hgdp | rs373227647 |
ensembl | rs373227647 |
geneview | rs373227647 |
scholar | rs373227647 |
rs373227647 | |
pharmgkb | rs373227647 |
gwascentral | rs373227647 |
openSNP | rs373227647 |
23andMe | rs373227647 |
SNPshot | rs373227647 |
SNPdbe | rs373227647 |
MSV3d | rs373227647 |
GWAS Ctlg | rs373227647 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373227647(C;C) |
Alt | rs373227647(C;C) |
Reference | Rs373227647(T;T) |
Significance | Pathogenic |
Disease | Cockayne syndrome B not provided |
Variation | info |
Gene | ERCC6 |
CLNDBN | Cockayne syndrome B not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.50680518T>C |
CLNSRC | |
CLNACC | RCV000170381.1, RCV000397640.1, |