rs128621198
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs128621198(C;C) |
Make rs128621198(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 101356910 |
Gene | BTK |
is a | snp |
is | mentioned by |
dbSNP | rs128621198 |
dbSNP (classic) | rs128621198 |
ClinGen | rs128621198 |
ebi | rs128621198 |
HLI | rs128621198 |
Exac | rs128621198 |
Gnomad | rs128621198 |
Varsome | rs128621198 |
LitVar | rs128621198 |
Map | rs128621198 |
PheGenI | rs128621198 |
Biobank | rs128621198 |
1000 genomes | rs128621198 |
hgdp | rs128621198 |
ensembl | rs128621198 |
geneview | rs128621198 |
scholar | rs128621198 |
rs128621198 | |
pharmgkb | rs128621198 |
gwascentral | rs128621198 |
openSNP | rs128621198 |
23andMe | rs128621198 |
SNPshot | rs128621198 |
SNPdbe | rs128621198 |
MSV3d | rs128621198 |
GWAS Ctlg | rs128621198 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs128621198(C;C) |
Alt | rs128621198(C;C) |
Reference | Rs128621198(T;T) |
Significance | Pathogenic |
Disease | X-linked agammaglobulinemia |
Variation | info |
Gene | BTK |
CLNDBN | X-linked agammaglobulinemia |
Reversed | 1 |
HGVS | NC_000023.10:g.100611898A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012126.2, |