rs128620186
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs128620186(C;C) |
Make rs128620186(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 101375283 |
Gene | BTK |
is a | snp |
is | mentioned by |
dbSNP | rs128620186 |
dbSNP (classic) | rs128620186 |
ClinGen | rs128620186 |
ebi | rs128620186 |
HLI | rs128620186 |
Exac | rs128620186 |
Gnomad | rs128620186 |
Varsome | rs128620186 |
LitVar | rs128620186 |
Map | rs128620186 |
PheGenI | rs128620186 |
Biobank | rs128620186 |
1000 genomes | rs128620186 |
hgdp | rs128620186 |
ensembl | rs128620186 |
geneview | rs128620186 |
scholar | rs128620186 |
rs128620186 | |
pharmgkb | rs128620186 |
gwascentral | rs128620186 |
openSNP | rs128620186 |
23andMe | rs128620186 |
SNPshot | rs128620186 |
SNPdbe | rs128620186 |
MSV3d | rs128620186 |
GWAS Ctlg | rs128620186 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs128620186(C;C) |
Alt | rs128620186(C;C) |
Reference | Rs128620186(T;T) |
Significance | Pathogenic |
Disease | X-linked agammaglobulinemia |
Variation | info |
Gene | BTK |
CLNDBN | X-linked agammaglobulinemia |
Reversed | 1 |
HGVS | NC_000023.10:g.100630271A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012102.2, |