rs1057519753
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057519753(G;T) |
Make rs1057519753(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 64846664 |
Gene | JAK1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519753 |
dbSNP (classic) | rs1057519753 |
ClinGen | rs1057519753 |
ebi | rs1057519753 |
HLI | rs1057519753 |
Exac | rs1057519753 |
Gnomad | rs1057519753 |
Varsome | rs1057519753 |
LitVar | rs1057519753 |
Map | rs1057519753 |
PheGenI | rs1057519753 |
Biobank | rs1057519753 |
1000 genomes | rs1057519753 |
hgdp | rs1057519753 |
ensembl | rs1057519753 |
geneview | rs1057519753 |
scholar | rs1057519753 |
rs1057519753 | |
pharmgkb | rs1057519753 |
gwascentral | rs1057519753 |
openSNP | rs1057519753 |
23andMe | rs1057519753 |
SNPshot | rs1057519753 |
SNPdbe | rs1057519753 |
MSV3d | rs1057519753 |
GWAS Ctlg | rs1057519753 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519753(T;T) |
Alt | rs1057519753(T;T) |
Reference | Rs1057519753(G;G) |
Significance | Probable-Pathogenic |
Disease | Leukemia Polycythemia vera Acute myeloid leukemia Lymphoblastic leukemia |
Variation | info |
Gene | JAK1 |
CLNDBN | Leukemia, acute, ?X-linked Polycythemia vera Acute myeloid leukemia Lymphoblastic leukemia, acute, with lymphomatous features |
Reversed | 1 |
HGVS | NC_000001.10:g.65312347C>A |
CLNSRC | |
CLNACC | RCV000419919.1, RCV000429980.1, RCV000430797.1, RCV000440192.1, |