rs786201745
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786201745(G;T) |
Make rs786201745(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 89953366 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs786201745 |
dbSNP (classic) | rs786201745 |
ClinGen | rs786201745 |
ebi | rs786201745 |
HLI | rs786201745 |
Exac | rs786201745 |
Gnomad | rs786201745 |
Varsome | rs786201745 |
LitVar | rs786201745 |
Map | rs786201745 |
PheGenI | rs786201745 |
Biobank | rs786201745 |
1000 genomes | rs786201745 |
hgdp | rs786201745 |
ensembl | rs786201745 |
geneview | rs786201745 |
scholar | rs786201745 |
rs786201745 | |
pharmgkb | rs786201745 |
gwascentral | rs786201745 |
openSNP | rs786201745 |
23andMe | rs786201745 |
SNPshot | rs786201745 |
SNPdbe | rs786201745 |
MSV3d | rs786201745 |
GWAS Ctlg | rs786201745 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786201745(T;T) |
Alt | rs786201745(T;T) |
Reference | Rs786201745(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Microcephaly |
Variation | info |
Gene | NBN |
CLNDBN | Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency |
Reversed | 1 |
HGVS | NC_000008.10:g.90965594C>A |
CLNSRC | |
CLNACC | RCV000164194.1, RCV000456402.1, |