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rs1057519753

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519753(G;T)
Make rs1057519753(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position64846664
GeneJAK1
is asnp
is mentioned by
dbSNPrs1057519753
dbSNP (classic)rs1057519753
ClinGenrs1057519753
ebirs1057519753
HLIrs1057519753
Exacrs1057519753
Gnomadrs1057519753
Varsomers1057519753
LitVarrs1057519753
Maprs1057519753
PheGenIrs1057519753
Biobankrs1057519753
1000 genomesrs1057519753
hgdprs1057519753
ensemblrs1057519753
geneviewrs1057519753
scholarrs1057519753
googlers1057519753
pharmgkbrs1057519753
gwascentralrs1057519753
openSNPrs1057519753
23andMers1057519753
SNPshotrs1057519753
SNPdbers1057519753
MSV3drs1057519753
GWAS Ctlgrs1057519753
Max Magnitude0
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,