rs786200884
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGATTGT;AGATTGT) | 0 | common in clinvar |
Make rs786200884(-;-) |
Make rs786200884(-;TTGTAGA) |
Make rs786200884(TTGTAGA;TTGTAGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 14909135 |
Gene | DCLRE1C |
is a | snp |
is | mentioned by |
dbSNP | rs786200884 |
dbSNP (classic) | rs786200884 |
ClinGen | rs786200884 |
ebi | rs786200884 |
HLI | rs786200884 |
Exac | rs786200884 |
Gnomad | rs786200884 |
Varsome | rs786200884 |
LitVar | rs786200884 |
Map | rs786200884 |
PheGenI | rs786200884 |
Biobank | rs786200884 |
1000 genomes | rs786200884 |
hgdp | rs786200884 |
ensembl | rs786200884 |
geneview | rs786200884 |
scholar | rs786200884 |
rs786200884 | |
pharmgkb | rs786200884 |
gwascentral | rs786200884 |
openSNP | rs786200884 |
23andMe | rs786200884 |
SNPshot | rs786200884 |
SNPdbe | rs786200884 |
MSV3d | rs786200884 |
GWAS Ctlg | rs786200884 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200884(-;-) |
Alt | rs786200884(-;-) |
Reference | Rs786200884(AGATTGT;AGATTGT) |
Significance | Pathogenic |
Disease | Severe combined immunodeficiency |
Variation | info |
Gene | DCLRE1C |
CLNDBN | Severe combined immunodeficiency, partial |
Reversed | 1 |
HGVS | NC_000010.10:g.14951134_14951140delTCTACAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004939.5, |