rs864321660
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAGA;AAGA) | 0 | common in clinvar |
Make rs864321660(-;-) |
Make rs864321660(-;AAGA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 101374545 |
Gene | BTK |
is a | snp |
is | mentioned by |
dbSNP | rs864321660 |
dbSNP (classic) | rs864321660 |
ClinGen | rs864321660 |
ebi | rs864321660 |
HLI | rs864321660 |
Exac | rs864321660 |
Gnomad | rs864321660 |
Varsome | rs864321660 |
LitVar | rs864321660 |
Map | rs864321660 |
PheGenI | rs864321660 |
Biobank | rs864321660 |
1000 genomes | rs864321660 |
hgdp | rs864321660 |
ensembl | rs864321660 |
geneview | rs864321660 |
scholar | rs864321660 |
rs864321660 | |
pharmgkb | rs864321660 |
gwascentral | rs864321660 |
openSNP | rs864321660 |
23andMe | rs864321660 |
SNPshot | rs864321660 |
SNPdbe | rs864321660 |
MSV3d | rs864321660 |
GWAS Ctlg | rs864321660 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864321660(-;-) |
Alt | rs864321660(-;-) |
Reference | Rs864321660(AAGA;AAGA) |
Significance | Pathogenic |
Disease | X-linked agammaglobulinemia |
Variation | info |
Gene | BTK |
CLNDBN | X-linked agammaglobulinemia |
Reversed | 1 |
HGVS | NC_000023.10:g.100629533_100629536delTCTT |
CLNSRC | BTK @ LOVD OMIM Allelic Variant |
CLNACC | RCV000012105.17, |