rs786200954
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786200954(-;-) |
Make rs786200954(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 58723089 |
Gene | MALT1 |
is a | snp |
is | mentioned by |
dbSNP | rs786200954 |
dbSNP (classic) | rs786200954 |
ClinGen | rs786200954 |
ebi | rs786200954 |
HLI | rs786200954 |
Exac | rs786200954 |
Gnomad | rs786200954 |
Varsome | rs786200954 |
LitVar | rs786200954 |
Map | rs786200954 |
PheGenI | rs786200954 |
Biobank | rs786200954 |
1000 genomes | rs786200954 |
hgdp | rs786200954 |
ensembl | rs786200954 |
geneview | rs786200954 |
scholar | rs786200954 |
rs786200954 | |
pharmgkb | rs786200954 |
gwascentral | rs786200954 |
openSNP | rs786200954 |
23andMe | rs786200954 |
SNPshot | rs786200954 |
SNPdbe | rs786200954 |
MSV3d | rs786200954 |
GWAS Ctlg | rs786200954 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200954(-;-) |
Alt | rs786200954(-;-) |
Reference | Rs786200954(C;C) |
Significance | Pathogenic |
Disease | Combined immunodeficiency |
Variation | info |
Gene | MALT1 |
CLNDBN | Combined immunodeficiency |
Reversed | 0 |
HGVS | NC_000018.9:g.56390321delC |
CLNSRC | |
CLNACC | RCV000169692.2, |