rs864321665
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs864321665(-;A) |
Make rs864321665(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 101362203 |
Gene | BTK |
is a | snp |
is | mentioned by |
dbSNP | rs864321665 |
dbSNP (classic) | rs864321665 |
ClinGen | rs864321665 |
ebi | rs864321665 |
HLI | rs864321665 |
Exac | rs864321665 |
Gnomad | rs864321665 |
Varsome | rs864321665 |
LitVar | rs864321665 |
Map | rs864321665 |
PheGenI | rs864321665 |
Biobank | rs864321665 |
1000 genomes | rs864321665 |
hgdp | rs864321665 |
ensembl | rs864321665 |
geneview | rs864321665 |
scholar | rs864321665 |
rs864321665 | |
pharmgkb | rs864321665 |
gwascentral | rs864321665 |
openSNP | rs864321665 |
23andMe | rs864321665 |
SNPshot | rs864321665 |
SNPdbe | rs864321665 |
MSV3d | rs864321665 |
GWAS Ctlg | rs864321665 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864321665(A;A) |
Alt | rs864321665(A;A) |
Reference | Rs864321665(-;-) |
Significance | Pathogenic |
Disease | X-linked agammaglobulinemia |
Variation | info |
Gene | BTK |
CLNDBN | X-linked agammaglobulinemia |
Reversed | 1 |
HGVS | NC_000023.10:g.100617192dupT |
CLNSRC | BTK @ LOVD OMIM Allelic Variant |
CLNACC | RCV000012111.2, |