rs397507178
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs397507178(-;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 132595759 |
Gene | RAD50 |
is a | snp |
is | mentioned by |
dbSNP | rs397507178 |
dbSNP (classic) | rs397507178 |
ClinGen | rs397507178 |
ebi | rs397507178 |
HLI | rs397507178 |
Exac | rs397507178 |
Gnomad | rs397507178 |
Varsome | rs397507178 |
LitVar | rs397507178 |
Map | rs397507178 |
PheGenI | rs397507178 |
Biobank | rs397507178 |
1000 genomes | rs397507178 |
hgdp | rs397507178 |
ensembl | rs397507178 |
geneview | rs397507178 |
scholar | rs397507178 |
rs397507178 | |
pharmgkb | rs397507178 |
gwascentral | rs397507178 |
openSNP | rs397507178 |
23andMe | rs397507178 |
SNPshot | rs397507178 |
SNPdbe | rs397507178 |
MSV3d | rs397507178 |
GWAS Ctlg | rs397507178 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507178(A;A) Rs397507178(T;T) |
Alt | rs397507178(A;A) Rs397507178(T;T) |
Reference | Rs397507178(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | RAD50 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.131931451dupT |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000030958.3, |