rs587776823
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAGTAACATCTTTAGAGTCGGGCATTT;AAGTAACATCTTTAGAGTCGGGCATTT) | 0 | common in clinvar |
Make rs587776823(-;-) |
Make rs587776823(-;TAACATCTTTAGAGTCGGGCATTTAAG) |
Make rs587776823(TAACATCTTTAGAGTCGGGCATTTAAG;TAACATCTTTAGAGTCGGGCATTTAAG) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 33432278 |
Gene | IFNGR2, TMEM50B |
is a | snp |
is | mentioned by |
dbSNP | rs587776823 |
dbSNP (classic) | rs587776823 |
ClinGen | rs587776823 |
ebi | rs587776823 |
HLI | rs587776823 |
Exac | rs587776823 |
Gnomad | rs587776823 |
Varsome | rs587776823 |
LitVar | rs587776823 |
Map | rs587776823 |
PheGenI | rs587776823 |
Biobank | rs587776823 |
1000 genomes | rs587776823 |
hgdp | rs587776823 |
ensembl | rs587776823 |
geneview | rs587776823 |
scholar | rs587776823 |
rs587776823 | |
pharmgkb | rs587776823 |
gwascentral | rs587776823 |
openSNP | rs587776823 |
23andMe | rs587776823 |
SNPshot | rs587776823 |
SNPdbe | rs587776823 |
MSV3d | rs587776823 |
GWAS Ctlg | rs587776823 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776823(-;-) |
Alt | rs587776823(-;-) |
Reference | Rs587776823(AAGTAACATCTTTAGAGTCGGGCATTT;AAGTAACATCTTTAGAGTCGGGCATTT) |
Significance | Pathogenic |
Disease | Immunodeficiency 28 |
Variation | info |
Gene | TMEM50B IFNGR2 |
CLNDBN | Immunodeficiency 28 |
Reversed | 0 |
HGVS | NC_000021.8:g.34804585_34804611del27 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015849.27, |