rs1057519723
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057519723(A;C) |
Make rs1057519723(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 5078362 |
Gene | INSL6, JAK2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519723 |
dbSNP (classic) | rs1057519723 |
ClinGen | rs1057519723 |
ebi | rs1057519723 |
HLI | rs1057519723 |
Exac | rs1057519723 |
Gnomad | rs1057519723 |
Varsome | rs1057519723 |
LitVar | rs1057519723 |
Map | rs1057519723 |
PheGenI | rs1057519723 |
Biobank | rs1057519723 |
1000 genomes | rs1057519723 |
hgdp | rs1057519723 |
ensembl | rs1057519723 |
geneview | rs1057519723 |
scholar | rs1057519723 |
rs1057519723 | |
pharmgkb | rs1057519723 |
gwascentral | rs1057519723 |
openSNP | rs1057519723 |
23andMe | rs1057519723 |
SNPshot | rs1057519723 |
SNPdbe | rs1057519723 |
MSV3d | rs1057519723 |
GWAS Ctlg | rs1057519723 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519723(C;C) rs1057519723(T;T) |
Alt | rs1057519723(C;C) rs1057519723(T;T) |
Reference | Rs1057519723(A;A) |
Significance | Pathogenic |
Disease | Lymphoblastic leukemia |
Variation | info |
Gene | JAK2 |
CLNDBN | Lymphoblastic leukemia, acute, with lymphomatous features |
Reversed | 0 |
HGVS | NC_000009.11:g.5078362A>C; NC_000009.11:g.5078362A>T |
CLNSRC | |
CLNACC | RCV000433693.1, RCV000443665.1, |