rs751838040
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs751838040(A;A) |
Make rs751838040(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 49530797 |
Gene | ERCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs751838040 |
dbSNP (classic) | rs751838040 |
ClinGen | rs751838040 |
ebi | rs751838040 |
HLI | rs751838040 |
Exac | rs751838040 |
Gnomad | rs751838040 |
Varsome | rs751838040 |
LitVar | rs751838040 |
Map | rs751838040 |
PheGenI | rs751838040 |
Biobank | rs751838040 |
1000 genomes | rs751838040 |
hgdp | rs751838040 |
ensembl | rs751838040 |
geneview | rs751838040 |
scholar | rs751838040 |
rs751838040 | |
pharmgkb | rs751838040 |
gwascentral | rs751838040 |
openSNP | rs751838040 |
23andMe | rs751838040 |
SNPshot | rs751838040 |
SNPdbe | rs751838040 |
MSV3d | rs751838040 |
GWAS Ctlg | rs751838040 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751838040(A;A) |
Alt | rs751838040(A;A) |
Reference | Rs751838040(G;G) |
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.50738843G>A |
CLNSRC | |
CLNACC | RCV000193828.1, RCV000224212.2, |