rs766044684
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs766044684(-;T) |
Make rs766044684(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 89953437 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs766044684 |
dbSNP (classic) | rs766044684 |
ClinGen | rs766044684 |
ebi | rs766044684 |
HLI | rs766044684 |
Exac | rs766044684 |
Gnomad | rs766044684 |
Varsome | rs766044684 |
LitVar | rs766044684 |
Map | rs766044684 |
PheGenI | rs766044684 |
Biobank | rs766044684 |
1000 genomes | rs766044684 |
hgdp | rs766044684 |
ensembl | rs766044684 |
geneview | rs766044684 |
scholar | rs766044684 |
rs766044684 | |
pharmgkb | rs766044684 |
gwascentral | rs766044684 |
openSNP | rs766044684 |
23andMe | rs766044684 |
SNPshot | rs766044684 |
SNPdbe | rs766044684 |
MSV3d | rs766044684 |
GWAS Ctlg | rs766044684 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs766044684(T;T) |
Alt | rs766044684(T;T) |
Reference | Rs766044684(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Microcephaly |
Variation | info |
Gene | NBN |
CLNDBN | Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency |
Reversed | 0 |
HGVS | NC_000008.10:g.90965666dupT |
CLNSRC | |
CLNACC | RCV000221563.1, RCV000472929.1, |