INSL6, insulin like 6, 11172

N. diseases: 11; N. variants: 53
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12342421
rs12342421 		0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2014
dbSNP: rs12342421
rs12342421 		0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs12342421
rs12342421 		0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs12342421
rs12342421 		0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs12342421
rs12342421 		0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs777015472
rs777015472 		1.000 0.040 9 5066740 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs73393498
rs73393498 		9 5067832 intron variant T/C snv 4.8E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs7869668
rs7869668 		9 5069837 intron variant G/A snv 0.61
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121912473
rs121912473 		0.925 0.080 9 5070026 missense variant AA/TT mnv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121912473
rs121912473 		0.925 0.080 9 5070026 missense variant AA/TT mnv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121912473
rs121912473 		0.925 0.080 9 5070026 missense variant AA/TT mnv
CUI: C4016234
Disease: ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC 		0.700 0
dbSNP: rs182123615
rs182123615 		0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs182123615
rs182123615 		0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C0349532
Disease: Gastric lymphoma
Gastric lymphoma 		Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs182123615
rs182123615 		0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs182123615
rs182123615 		0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs182123615
rs182123615 		0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs182123615
rs182123615 		0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs182123615
rs182123615 		0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10974944
rs10974944 		0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.040 1.000 4 2009 2014
dbSNP: rs10974944
rs10974944 		0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.810 1.000 2 2009 2010
dbSNP: rs10974944
rs10974944 		0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10974944
rs10974944 		0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs764634461
rs764634461 		1.000 0.080 9 5072516 missense variant T/G snv 1.2E-05 2.8E-05
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs368927897
rs368927897 		0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs368927897
rs368927897 		0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017