rs762664474
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs762664474(-;TC) |
Make rs762664474(TC;TC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 89981483 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs762664474 |
dbSNP (classic) | rs762664474 |
ClinGen | rs762664474 |
ebi | rs762664474 |
HLI | rs762664474 |
Exac | rs762664474 |
Gnomad | rs762664474 |
Varsome | rs762664474 |
LitVar | rs762664474 |
Map | rs762664474 |
PheGenI | rs762664474 |
Biobank | rs762664474 |
1000 genomes | rs762664474 |
hgdp | rs762664474 |
ensembl | rs762664474 |
geneview | rs762664474 |
scholar | rs762664474 |
rs762664474 | |
pharmgkb | rs762664474 |
gwascentral | rs762664474 |
openSNP | rs762664474 |
23andMe | rs762664474 |
SNPshot | rs762664474 |
SNPdbe | rs762664474 |
MSV3d | rs762664474 |
GWAS Ctlg | rs762664474 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762664474(TC;TC) |
Alt | rs762664474(TC;TC) |
Reference | Rs762664474(-;-) |
Significance | Pathogenic |
Disease | Microcephaly |
Variation | info |
Gene | NBN |
CLNDBN | Microcephaly, normal intelligence and immunodeficiency |
Reversed | 0 |
HGVS | NC_000008.10:g.90993711_90993712insTC |
CLNSRC | |
CLNACC | RCV000200419.2, |