Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 1.000 1 2005 2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin 		0.010 1.000 1 2019 2019
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.010 1.000 1 2012 2012
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
Monoclonal Gammopathy of Undetermined Significance 		0.010 1.000 1 2007 2007
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 1.000 1 2013 2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia 		0.010 1.000 1 2015 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		0.010 1.000 1 2014 2014
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C4303426
Disease: Refractory anemia with ringed sideroblasts associated with marked thrombocytosis
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis 		0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2007 2007
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0153426
Disease: Malignant neoplasm of duodenum
Malignant neoplasm of duodenum 		0.010 1.000 1 2016 2016
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0410000
Disease: Overlap syndrome
Overlap syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0040997
Disease: Trigeminal Neuralgia
Trigeminal Neuralgia 		0.010 < 0.001 1 2018 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.010 1.000 1 2016 2016
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		0.010 < 0.001 1 2010 2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1328061
Disease: Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Myelodysplastic/myeloproliferative neoplasm, unclassifiable 		0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0014800
Disease: Erythroid hyperplasia
Erythroid hyperplasia 		0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C4721505
Disease: Sarcoma, Myeloid
Sarcoma, Myeloid 		0.010 1.000 1 2014 2014
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 1.000 1 2013 2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 1.000 1 2016 2016