rs200287925
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200287925(A;A) |
Make rs200287925(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 89982766 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs200287925 |
dbSNP (classic) | rs200287925 |
ClinGen | rs200287925 |
ebi | rs200287925 |
HLI | rs200287925 |
Exac | rs200287925 |
Gnomad | rs200287925 |
Varsome | rs200287925 |
LitVar | rs200287925 |
Map | rs200287925 |
PheGenI | rs200287925 |
Biobank | rs200287925 |
1000 genomes | rs200287925 |
hgdp | rs200287925 |
ensembl | rs200287925 |
geneview | rs200287925 |
scholar | rs200287925 |
rs200287925 | |
pharmgkb | rs200287925 |
gwascentral | rs200287925 |
openSNP | rs200287925 |
23andMe | rs200287925 |
SNPshot | rs200287925 |
SNPdbe | rs200287925 |
MSV3d | rs200287925 |
GWAS Ctlg | rs200287925 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200287925(A;A) |
Alt | rs200287925(A;A) |
Reference | Rs200287925(G;G) |
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 | 0 |
HGVS | NC_000008.10:g.90994994G>A |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000131193.3, RCV000409406.1, RCV000489509.1, |