rs368980595
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs368980595(C;T) |
Make rs368980595(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 132618134 |
Gene | RAD50 |
is a | snp |
is | mentioned by |
dbSNP | rs368980595 |
dbSNP (classic) | rs368980595 |
ClinGen | rs368980595 |
ebi | rs368980595 |
HLI | rs368980595 |
Exac | rs368980595 |
Gnomad | rs368980595 |
Varsome | rs368980595 |
LitVar | rs368980595 |
Map | rs368980595 |
PheGenI | rs368980595 |
Biobank | rs368980595 |
1000 genomes | rs368980595 |
hgdp | rs368980595 |
ensembl | rs368980595 |
geneview | rs368980595 |
scholar | rs368980595 |
rs368980595 | |
pharmgkb | rs368980595 |
gwascentral | rs368980595 |
openSNP | rs368980595 |
23andMe | rs368980595 |
SNPshot | rs368980595 |
SNPdbe | rs368980595 |
MSV3d | rs368980595 |
GWAS Ctlg | rs368980595 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368980595(A;A) rs368980595(T;T) |
Alt | rs368980595(A;A) rs368980595(T;T) |
Reference | Rs368980595(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | RAD50 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.131953826C>A; NC_000005.9:g.131953826C>T |
CLNSRC | |
CLNACC | RCV000219691.1, RCV000217668.1, |