rs3212723
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs3212723(A;A) |
Make rs3212723(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 17843406 |
Gene | JAK3 |
is a | snp |
is | mentioned by |
dbSNP | rs3212723 |
dbSNP (classic) | rs3212723 |
ClinGen | rs3212723 |
ebi | rs3212723 |
HLI | rs3212723 |
Exac | rs3212723 |
Gnomad | rs3212723 |
Varsome | rs3212723 |
LitVar | rs3212723 |
Map | rs3212723 |
PheGenI | rs3212723 |
Biobank | rs3212723 |
1000 genomes | rs3212723 |
hgdp | rs3212723 |
ensembl | rs3212723 |
geneview | rs3212723 |
scholar | rs3212723 |
rs3212723 | |
pharmgkb | rs3212723 |
gwascentral | rs3212723 |
openSNP | rs3212723 |
23andMe | rs3212723 |
SNPshot | rs3212723 |
SNPdbe | rs3212723 |
MSV3d | rs3212723 |
GWAS Ctlg | rs3212723 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs3212723(A;A) |
Alt | rs3212723(A;A) |
Reference | Rs3212723(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Severe Combined Immune Deficiency Lymphoblastic leukemia Acute megakaryoblastic leukemia |
Variation | info |
Gene | JAK3 |
CLNDBN | not specified Severe Combined Immune Deficiency Lymphoblastic leukemia, acute, with lymphomatous features Acute megakaryoblastic leukemia |
Reversed | 1 |
HGVS | NC_000019.9:g.17954215G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000121269.2, RCV000281289.1, RCV000433061.1, RCV000442628.1, |