rs199469664
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199469664(G;T) |
Make rs199469664(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 151014468 |
Gene | LRBA |
is a | snp |
is | mentioned by |
dbSNP | rs199469664 |
dbSNP (classic) | rs199469664 |
ClinGen | rs199469664 |
ebi | rs199469664 |
HLI | rs199469664 |
Exac | rs199469664 |
Gnomad | rs199469664 |
Varsome | rs199469664 |
LitVar | rs199469664 |
Map | rs199469664 |
PheGenI | rs199469664 |
Biobank | rs199469664 |
1000 genomes | rs199469664 |
hgdp | rs199469664 |
ensembl | rs199469664 |
geneview | rs199469664 |
scholar | rs199469664 |
rs199469664 | |
pharmgkb | rs199469664 |
gwascentral | rs199469664 |
openSNP | rs199469664 |
23andMe | rs199469664 |
SNPshot | rs199469664 |
SNPdbe | rs199469664 |
MSV3d | rs199469664 |
GWAS Ctlg | rs199469664 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199469664(A;A) rs199469664(T;T) |
Alt | rs199469664(A;A) rs199469664(T;T) |
Reference | Rs199469664(G;G) |
Significance | Pathogenic |
Disease | Common variable immunodeficiency 8 |
Variation | info |
Gene | LRBA |
CLNDBN | Common variable immunodeficiency 8, with autoimmunity |
Reversed | 1 |
HGVS | NC_000004.11:g.151935620C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000029136.4, |