rs193922640
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs193922640(-;ATATATTTCA) |
Make rs193922640(ATATATTTCA;ATATATTTCA) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 35867364 |
Gene | IL7R |
is a | snp |
is | mentioned by |
dbSNP | rs193922640 |
dbSNP (classic) | rs193922640 |
ClinGen | rs193922640 |
ebi | rs193922640 |
HLI | rs193922640 |
Exac | rs193922640 |
Gnomad | rs193922640 |
Varsome | rs193922640 |
LitVar | rs193922640 |
Map | rs193922640 |
PheGenI | rs193922640 |
Biobank | rs193922640 |
1000 genomes | rs193922640 |
hgdp | rs193922640 |
ensembl | rs193922640 |
geneview | rs193922640 |
scholar | rs193922640 |
rs193922640 | |
pharmgkb | rs193922640 |
gwascentral | rs193922640 |
openSNP | rs193922640 |
23andMe | rs193922640 |
SNPshot | rs193922640 |
SNPdbe | rs193922640 |
MSV3d | rs193922640 |
GWAS Ctlg | rs193922640 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922640(ATATATTTCA;ATATATTTCA) |
Alt | rs193922640(ATATATTTCA;ATATATTTCA) |
Reference | Rs193922640(-;-) |
Significance | Probable-Pathogenic |
Disease | Severe combined immunodeficiency disease |
Variation | info |
Gene | IL7R |
CLNDBN | Severe combined immunodeficiency disease |
Reversed | 0 |
HGVS | NC_000005.9:g.35867457_35867466dupATATATTTCA |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030060.1, |