RS148636776 SH2B3

Health Risk Chr 12:111447491
Upload your DNA to see your genotype for this variant.
What This Variant Does
"aka E395K Based on ACMG guidelines, originally classified as of 'uncertain status' for familial eryt..."
Associated Conditions
Primary familial polycythemia due to EPO receptor mutation
Thrombocythemia 1
Primary myelofibrosis
Primary familial polycythemia due to EPO receptor mutation
Thrombocythemia 1
Primary myelofibrosis
GWAS Studies (6)
Trait Risk Allele OR / Beta P-value Study
Platelet count — OR: 0.72 2E-62 PubMed
Plateletcrit A OR: 0.59 1E-16 PubMed
Platelet count A OR: 0.55 8E-15 PubMed
Cystatin C levels — OR: 0.3 1E-10 PubMed
Red blood cell count — OR: 0.28 2E-9 PubMed
Hemoglobin levels — OR: 0.29 3E-9 PubMed
Other Variants in SH2B3
rs587776885 rs79819500 rs147341899 rs376261237 rs2500219496 rs939947819 rs751076276 rs202080221
Ask Dr. Hemsworth about this variant