rs730881864
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730881864(C;T) |
Make rs730881864(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 89943297 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs730881864 |
dbSNP (classic) | rs730881864 |
ClinGen | rs730881864 |
ebi | rs730881864 |
HLI | rs730881864 |
Exac | rs730881864 |
Gnomad | rs730881864 |
Varsome | rs730881864 |
LitVar | rs730881864 |
Map | rs730881864 |
PheGenI | rs730881864 |
Biobank | rs730881864 |
1000 genomes | rs730881864 |
hgdp | rs730881864 |
ensembl | rs730881864 |
geneview | rs730881864 |
scholar | rs730881864 |
rs730881864 | |
pharmgkb | rs730881864 |
gwascentral | rs730881864 |
openSNP | rs730881864 |
23andMe | rs730881864 |
SNPshot | rs730881864 |
SNPdbe | rs730881864 |
MSV3d | rs730881864 |
GWAS Ctlg | rs730881864 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881864(G;G) rs730881864(T;T) |
Alt | rs730881864(G;G) rs730881864(T;T) |
Reference | Rs730881864(C;C) |
Significance | Pathogenic |
Disease | not provided Microcephaly Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | NBN |
CLNDBN | not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000008.10:g.90955525G>A |
CLNSRC | |
CLNACC | RCV000160804.3, RCV000204431.2, RCV000215628.1, |