rs1057516668
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057516668(-;-) |
Make rs1057516668(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 89946236 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs1057516668 |
dbSNP (classic) | rs1057516668 |
ClinGen | rs1057516668 |
ebi | rs1057516668 |
HLI | rs1057516668 |
Exac | rs1057516668 |
Gnomad | rs1057516668 |
Varsome | rs1057516668 |
LitVar | rs1057516668 |
Map | rs1057516668 |
PheGenI | rs1057516668 |
Biobank | rs1057516668 |
1000 genomes | rs1057516668 |
hgdp | rs1057516668 |
ensembl | rs1057516668 |
geneview | rs1057516668 |
scholar | rs1057516668 |
rs1057516668 | |
pharmgkb | rs1057516668 |
gwascentral | rs1057516668 |
openSNP | rs1057516668 |
23andMe | rs1057516668 |
SNPshot | rs1057516668 |
SNPdbe | rs1057516668 |
MSV3d | rs1057516668 |
GWAS Ctlg | rs1057516668 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516668(-;-) |
Alt | rs1057516668(-;-) |
Reference | Rs1057516668(A;A) |
Significance | Probable-Pathogenic |
Disease | Microcephaly |
Variation | info |
Gene | NBN |
CLNDBN | Microcephaly, normal intelligence and immunodeficiency |
Reversed | 1 |
HGVS | NC_000008.10:g.90958464delT |
CLNSRC | |
CLNACC | RCV000411916.1, |