rs774357869
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs774357869(A;A) |
Make rs774357869(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 151817238 |
Gene | RORC |
is a | snp |
is | mentioned by |
dbSNP | rs774357869 |
dbSNP (classic) | rs774357869 |
ClinGen | rs774357869 |
ebi | rs774357869 |
HLI | rs774357869 |
Exac | rs774357869 |
Gnomad | rs774357869 |
Varsome | rs774357869 |
LitVar | rs774357869 |
Map | rs774357869 |
PheGenI | rs774357869 |
Biobank | rs774357869 |
1000 genomes | rs774357869 |
hgdp | rs774357869 |
ensembl | rs774357869 |
geneview | rs774357869 |
scholar | rs774357869 |
rs774357869 | |
pharmgkb | rs774357869 |
gwascentral | rs774357869 |
openSNP | rs774357869 |
23andMe | rs774357869 |
SNPshot | rs774357869 |
SNPdbe | rs774357869 |
MSV3d | rs774357869 |
GWAS Ctlg | rs774357869 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774357869(A;A) |
Alt | rs774357869(A;A) |
Reference | Rs774357869(G;G) |
Significance | Pathogenic |
Disease | Immunodeficiency 42 |
Variation | info |
Gene | RORC |
CLNDBN | Immunodeficiency 42 |
Reversed | 0 |
HGVS | NC_000001.10:g.151789714G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000201419.2, |