rs786205891
From SNPedia
Merged into | rs782753385 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786205891(C;C) |
Make rs786205891(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 121641318 |
Gene | ORAI1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205891 |
dbSNP (classic) | rs786205891 |
ClinGen | rs786205891 |
ebi | rs786205891 |
HLI | rs786205891 |
Exac | rs786205891 |
Gnomad | rs786205891 |
Varsome | rs786205891 |
LitVar | rs786205891 |
Map | rs786205891 |
PheGenI | rs786205891 |
Biobank | rs786205891 |
1000 genomes | rs786205891 |
hgdp | rs786205891 |
ensembl | rs786205891 |
geneview | rs786205891 |
scholar | rs786205891 |
rs786205891 | |
pharmgkb | rs786205891 |
gwascentral | rs786205891 |
openSNP | rs786205891 |
23andMe | rs786205891 |
SNPshot | rs786205891 |
SNPdbe | rs786205891 |
MSV3d | rs786205891 |
GWAS Ctlg | rs786205891 |
Status | Merged into rs782753385 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205891(C;C) |
Alt | rs786205891(C;C) |
Reference | Rs786205891(T;T) |
Significance | Pathogenic |
Disease | Immune dysfunction with T-cell inactivation due to calcium entry defect 1 |
Variation | info |
Gene | ORAI1 |
CLNDBN | Immune dysfunction with T-cell inactivation due to calcium entry defect 1 |
Reversed | 0 |
HGVS | NC_000012.12:g.121641318T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000172860.1, |