rs786201965
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786201965(C;C) |
Make rs786201965(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 89943367 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs786201965 |
dbSNP (classic) | rs786201965 |
ClinGen | rs786201965 |
ebi | rs786201965 |
HLI | rs786201965 |
Exac | rs786201965 |
Gnomad | rs786201965 |
Varsome | rs786201965 |
LitVar | rs786201965 |
Map | rs786201965 |
PheGenI | rs786201965 |
Biobank | rs786201965 |
1000 genomes | rs786201965 |
hgdp | rs786201965 |
ensembl | rs786201965 |
geneview | rs786201965 |
scholar | rs786201965 |
rs786201965 | |
pharmgkb | rs786201965 |
gwascentral | rs786201965 |
openSNP | rs786201965 |
23andMe | rs786201965 |
SNPshot | rs786201965 |
SNPdbe | rs786201965 |
MSV3d | rs786201965 |
GWAS Ctlg | rs786201965 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786201965(A;A) rs786201965(C;C) |
Alt | rs786201965(A;A) rs786201965(C;C) |
Reference | Rs786201965(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Microcephaly not provided |
Variation | info |
Gene | NBN |
CLNDBN | Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not provided |
Reversed | 1 |
HGVS | NC_000008.10:g.90955595C>G; NC_000008.10:g.90955595C>T |
CLNSRC | |
CLNACC | RCV000164521.1, RCV000409665.1, RCV000483747.1, RCV000217514.1, RCV000222103.1, |