rs149201802
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs149201802(C;T) |
Make rs149201802(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 132594950 |
Gene | RAD50 |
is a | snp |
is | mentioned by |
dbSNP | rs149201802 |
dbSNP (classic) | rs149201802 |
ClinGen | rs149201802 |
ebi | rs149201802 |
HLI | rs149201802 |
Exac | rs149201802 |
Gnomad | rs149201802 |
Varsome | rs149201802 |
LitVar | rs149201802 |
Map | rs149201802 |
PheGenI | rs149201802 |
Biobank | rs149201802 |
1000 genomes | rs149201802 |
hgdp | rs149201802 |
ensembl | rs149201802 |
geneview | rs149201802 |
scholar | rs149201802 |
rs149201802 | |
pharmgkb | rs149201802 |
gwascentral | rs149201802 |
openSNP | rs149201802 |
23andMe | rs149201802 |
SNPshot | rs149201802 |
SNPdbe | rs149201802 |
MSV3d | rs149201802 |
GWAS Ctlg | rs149201802 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149201802(G;G) rs149201802(T;T) |
Alt | rs149201802(G;G) rs149201802(T;T) |
Reference | Rs149201802(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Nijmegen breakage syndrome-like disorder |
Variation | info |
Gene | RAD50 |
CLNDBN | Hereditary cancer-predisposing syndrome Nijmegen breakage syndrome-like disorder |
Reversed | 0 |
HGVS | NC_000005.9:g.131930642C>G; NC_000005.9:g.131930642C>T |
CLNSRC | |
CLNACC | RCV000205188.3, RCV000411352.1, RCV000163046.4, |