rs281865422
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281865422(C;T) |
Make rs281865422(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 14 |
Position | 105855107 |
Gene | IGH@ |
is a | snp |
is | mentioned by |
dbSNP | rs281865422 |
dbSNP (classic) | rs281865422 |
ClinGen | rs281865422 |
ebi | rs281865422 |
HLI | rs281865422 |
Exac | rs281865422 |
Gnomad | rs281865422 |
Varsome | rs281865422 |
LitVar | rs281865422 |
Map | rs281865422 |
PheGenI | rs281865422 |
Biobank | rs281865422 |
1000 genomes | rs281865422 |
hgdp | rs281865422 |
ensembl | rs281865422 |
geneview | rs281865422 |
scholar | rs281865422 |
rs281865422 | |
pharmgkb | rs281865422 |
gwascentral | rs281865422 |
openSNP | rs281865422 |
23andMe | rs281865422 |
SNPshot | rs281865422 |
SNPdbe | rs281865422 |
MSV3d | rs281865422 |
GWAS Ctlg | rs281865422 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865422(T;T) |
Alt | rs281865422(T;T) |
Reference | Rs281865422(C;C) |
Significance | Pathogenic |
Disease | Agammaglobulinemia |
Variation | info |
Gene | |
CLNDBN | Agammaglobulinemia, non-Bruton type |
Reversed | 0 |
HGVS | NC_000014.8:g.106321212C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015936.26, |