rs202080674
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202080674(A;A) |
Make rs202080674(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 49482848 |
Gene | ERCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs202080674 |
dbSNP (classic) | rs202080674 |
ClinGen | rs202080674 |
ebi | rs202080674 |
HLI | rs202080674 |
Exac | rs202080674 |
Gnomad | rs202080674 |
Varsome | rs202080674 |
LitVar | rs202080674 |
Map | rs202080674 |
PheGenI | rs202080674 |
Biobank | rs202080674 |
1000 genomes | rs202080674 |
hgdp | rs202080674 |
ensembl | rs202080674 |
geneview | rs202080674 |
scholar | rs202080674 |
rs202080674 | |
pharmgkb | rs202080674 |
gwascentral | rs202080674 |
openSNP | rs202080674 |
23andMe | rs202080674 |
SNPshot | rs202080674 |
SNPdbe | rs202080674 |
MSV3d | rs202080674 |
GWAS Ctlg | rs202080674 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202080674(A;A) |
Alt | rs202080674(A;A) |
Reference | Rs202080674(G;G) |
Significance | Pathogenic |
Disease | Cockayne syndrome B |
Variation | info |
Gene | ERCC6 |
CLNDBN | Cockayne syndrome B |
Reversed | 0 |
HGVS | NC_000010.10:g.50690894G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000170376.1, |