rs7197779
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(G;G) | 0 | common in complete genomics |
Make rs7197779(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 10909070 |
Gene | CIITA, LOC105371080 |
is a | snp |
is | mentioned by |
dbSNP | rs7197779 |
dbSNP (classic) | rs7197779 |
ClinGen | rs7197779 |
ebi | rs7197779 |
HLI | rs7197779 |
Exac | rs7197779 |
Gnomad | rs7197779 |
Varsome | rs7197779 |
LitVar | rs7197779 |
Map | rs7197779 |
PheGenI | rs7197779 |
Biobank | rs7197779 |
1000 genomes | rs7197779 |
hgdp | rs7197779 |
ensembl | rs7197779 |
geneview | rs7197779 |
scholar | rs7197779 |
rs7197779 | |
pharmgkb | rs7197779 |
gwascentral | rs7197779 |
openSNP | rs7197779 |
23andMe | rs7197779 |
SNPshot | rs7197779 |
SNPdbe | rs7197779 |
MSV3d | rs7197779 |
GWAS Ctlg | rs7197779 |
GMAF | 0.05372 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs7197779(G;G) |
Alt | Rs7197779(G;G) |
Reference | Rs7197779(A;A) |
Significance | Non-pathogenic |
Disease | SCID due to absent class II HLA antigens not specified |
Variation | info |
Gene | CIITA |
CLNDBN | SCID due to absent class II HLA antigens not specified |
Reversed | 0 |
HGVS | NC_000016.9:g.11002927A>G |
CLNSRC | |
CLNACC | RCV000292677.1, RCV000455801.1, |