rs786202490
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs786202490(-;-) |
Make rs786202490(-;GT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 89970451 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs786202490 |
dbSNP (classic) | rs786202490 |
ClinGen | rs786202490 |
ebi | rs786202490 |
HLI | rs786202490 |
Exac | rs786202490 |
Gnomad | rs786202490 |
Varsome | rs786202490 |
LitVar | rs786202490 |
Map | rs786202490 |
PheGenI | rs786202490 |
Biobank | rs786202490 |
1000 genomes | rs786202490 |
hgdp | rs786202490 |
ensembl | rs786202490 |
geneview | rs786202490 |
scholar | rs786202490 |
rs786202490 | |
pharmgkb | rs786202490 |
gwascentral | rs786202490 |
openSNP | rs786202490 |
23andMe | rs786202490 |
SNPshot | rs786202490 |
SNPdbe | rs786202490 |
MSV3d | rs786202490 |
GWAS Ctlg | rs786202490 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786202490(-;-) |
Alt | rs786202490(-;-) |
Reference | Rs786202490(GT;GT) |
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.90982679_90982680delAC |
CLNSRC | |
CLNACC | RCV000165330.1, RCV000205978.1, RCV000480505.1, |