rs151242354
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs151242354(A;A) |
Make rs151242354(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 49482689 |
Gene | ERCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs151242354 |
dbSNP (classic) | rs151242354 |
ClinGen | rs151242354 |
ebi | rs151242354 |
HLI | rs151242354 |
Exac | rs151242354 |
Gnomad | rs151242354 |
Varsome | rs151242354 |
LitVar | rs151242354 |
Map | rs151242354 |
PheGenI | rs151242354 |
Biobank | rs151242354 |
1000 genomes | rs151242354 |
hgdp | rs151242354 |
ensembl | rs151242354 |
geneview | rs151242354 |
scholar | rs151242354 |
rs151242354 | |
pharmgkb | rs151242354 |
gwascentral | rs151242354 |
openSNP | rs151242354 |
23andMe | rs151242354 |
SNPshot | rs151242354 |
SNPdbe | rs151242354 |
MSV3d | rs151242354 |
GWAS Ctlg | rs151242354 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151242354(A;A) |
Alt | rs151242354(A;A) |
Reference | Rs151242354(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.50690735G>A |
CLNSRC | |
CLNACC | RCV000170378.1, RCV000256036.1, |