rs786201006
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCGCTCCT;TCGCTCCT) | 0 | common in clinvar |
Make rs786201006(-;-) |
Make rs786201006(-;TCGCTCCT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 159323113 |
Gene | IL12B, LOC107986469 |
is a | snp |
is | mentioned by |
dbSNP | rs786201006 |
dbSNP (classic) | rs786201006 |
ClinGen | rs786201006 |
ebi | rs786201006 |
HLI | rs786201006 |
Exac | rs786201006 |
Gnomad | rs786201006 |
Varsome | rs786201006 |
LitVar | rs786201006 |
Map | rs786201006 |
PheGenI | rs786201006 |
Biobank | rs786201006 |
1000 genomes | rs786201006 |
hgdp | rs786201006 |
ensembl | rs786201006 |
geneview | rs786201006 |
scholar | rs786201006 |
rs786201006 | |
pharmgkb | rs786201006 |
gwascentral | rs786201006 |
openSNP | rs786201006 |
23andMe | rs786201006 |
SNPshot | rs786201006 |
SNPdbe | rs786201006 |
MSV3d | rs786201006 |
GWAS Ctlg | rs786201006 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786201006(-;-) |
Alt | rs786201006(-;-) |
Reference | Rs786201006(TCGCTCCT;TCGCTCCT) |
Significance | Pathogenic |
Disease | Immunodeficiency 29 |
Variation | info |
Gene | IL12B |
CLNDBN | Immunodeficiency 29 |
Reversed | 1 |
HGVS | NC_000005.9:g.158750121_158750128delAGGAGCGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162204.4, |