rs142301194
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs142301194(A;C) |
Make rs142301194(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 89937024 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs142301194 |
dbSNP (classic) | rs142301194 |
ClinGen | rs142301194 |
ebi | rs142301194 |
HLI | rs142301194 |
Exac | rs142301194 |
Gnomad | rs142301194 |
Varsome | rs142301194 |
LitVar | rs142301194 |
Map | rs142301194 |
PheGenI | rs142301194 |
Biobank | rs142301194 |
1000 genomes | rs142301194 |
hgdp | rs142301194 |
ensembl | rs142301194 |
geneview | rs142301194 |
scholar | rs142301194 |
rs142301194 | |
pharmgkb | rs142301194 |
gwascentral | rs142301194 |
openSNP | rs142301194 |
23andMe | rs142301194 |
SNPshot | rs142301194 |
SNPdbe | rs142301194 |
MSV3d | rs142301194 |
GWAS Ctlg | rs142301194 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142301194(C;C) |
Alt | rs142301194(C;C) |
Reference | Rs142301194(A;A) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | NBN |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.90949252A>C |
CLNSRC | |
CLNACC | RCV000164379.1, |