rs587782545
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587782545(A;T) |
Make rs587782545(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 89947835 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs587782545 |
dbSNP (classic) | rs587782545 |
ClinGen | rs587782545 |
ebi | rs587782545 |
HLI | rs587782545 |
Exac | rs587782545 |
Gnomad | rs587782545 |
Varsome | rs587782545 |
LitVar | rs587782545 |
Map | rs587782545 |
PheGenI | rs587782545 |
Biobank | rs587782545 |
1000 genomes | rs587782545 |
hgdp | rs587782545 |
ensembl | rs587782545 |
geneview | rs587782545 |
scholar | rs587782545 |
rs587782545 | |
pharmgkb | rs587782545 |
gwascentral | rs587782545 |
openSNP | rs587782545 |
23andMe | rs587782545 |
SNPshot | rs587782545 |
SNPdbe | rs587782545 |
MSV3d | rs587782545 |
GWAS Ctlg | rs587782545 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587782545(T;T) |
Alt | rs587782545(T;T) |
Reference | Rs587782545(A;A) |
Significance | Other |
Disease | Hereditary cancer-predisposing syndrome not provided Microcephaly |
Variation | info |
Gene | NBN |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Microcephaly, normal intelligence and immunodeficiency |
Reversed | 1 |
HGVS | NC_000008.10:g.90960063T>A |
CLNSRC | |
CLNACC | RCV000131755.3, RCV000219708.2, RCV000227700.2, |