rs864321659
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs864321659(A;A) |
Make rs864321659(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 101353865 |
Gene | BTK |
is a | snp |
is | mentioned by |
dbSNP | rs864321659 |
dbSNP (classic) | rs864321659 |
ClinGen | rs864321659 |
ebi | rs864321659 |
HLI | rs864321659 |
Exac | rs864321659 |
Gnomad | rs864321659 |
Varsome | rs864321659 |
LitVar | rs864321659 |
Map | rs864321659 |
PheGenI | rs864321659 |
Biobank | rs864321659 |
1000 genomes | rs864321659 |
hgdp | rs864321659 |
ensembl | rs864321659 |
geneview | rs864321659 |
scholar | rs864321659 |
rs864321659 | |
pharmgkb | rs864321659 |
gwascentral | rs864321659 |
openSNP | rs864321659 |
23andMe | rs864321659 |
SNPshot | rs864321659 |
SNPdbe | rs864321659 |
MSV3d | rs864321659 |
GWAS Ctlg | rs864321659 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864321659(A;A) |
Alt | rs864321659(A;A) |
Reference | Rs864321659(G;G) |
Significance | Pathogenic |
Disease | X-linked agammaglobulinemia with growth hormone deficiency |
Variation | info |
Gene | BTK |
CLNDBN | X-linked agammaglobulinemia with growth hormone deficiency |
Reversed | 1 |
HGVS | NC_000023.10:g.100608853C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012100.11, |