rs193922125
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs193922125(A;T) |
Make rs193922125(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 101356107 |
Gene | BTK |
is a | snp |
is | mentioned by |
dbSNP | rs193922125 |
dbSNP (classic) | rs193922125 |
ClinGen | rs193922125 |
ebi | rs193922125 |
HLI | rs193922125 |
Exac | rs193922125 |
Gnomad | rs193922125 |
Varsome | rs193922125 |
LitVar | rs193922125 |
Map | rs193922125 |
PheGenI | rs193922125 |
Biobank | rs193922125 |
1000 genomes | rs193922125 |
hgdp | rs193922125 |
ensembl | rs193922125 |
geneview | rs193922125 |
scholar | rs193922125 |
rs193922125 | |
pharmgkb | rs193922125 |
gwascentral | rs193922125 |
openSNP | rs193922125 |
23andMe | rs193922125 |
SNPshot | rs193922125 |
SNPdbe | rs193922125 |
MSV3d | rs193922125 |
GWAS Ctlg | rs193922125 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922125(T;T) |
Alt | rs193922125(T;T) |
Reference | Rs193922125(A;A) |
Significance | Probable-Pathogenic |
Disease | X-linked agammaglobulinemia |
Variation | info |
Gene | BTK |
CLNDBN | X-linked agammaglobulinemia |
Reversed | 1 |
HGVS | NC_000023.10:g.100611095T>A |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029410.1, |
[PMID 15661032] Genetic analysis of patients with defects in early B-cell development.