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: rs144087410
rs144087410 		9 5185581 missense variant A/T snv 2.1E-03 2.0E-03
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs145699582
rs145699582 		1.000 0.080 9 5169600 intron variant C/T snv 2.5E-03
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs143639284
rs143639284 		9 5140958 intron variant G/A snv 6.3E-05
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs1479478620
rs1479478620 		1.000 0.040 9 5126768 missense variant A/G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs142269166
rs142269166 		1.000 0.040 9 5126715 missense variant A/G snv 2.0E-03 2.1E-03
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs41316003
rs41316003 		1.000 0.040 9 5126343 missense variant G/A;C snv 4.4E-03
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs41316003
rs41316003 		1.000 0.040 9 5126343 missense variant G/A;C snv 4.4E-03
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs3780378
rs3780378 		1.000 0.040 9 5112288 non coding transcript exon variant C/T snv 0.51
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1346944271
rs1346944271 		1.000 0.120 9 5090497 missense variant G/A snv 1.4E-05
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs202237966
rs202237966 		9 5089770 missense variant G/A snv 1.7E-05
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1057520016
rs1057520016 		0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057520016
rs1057520016 		0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057520016
rs1057520016 		0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057520016
rs1057520016 		0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1057520016
rs1057520016 		0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs7857730
rs7857730 		0.925 0.040 9 5084049 intron variant G/A;T snv 0.63
CUI: C0238694
Disease: Peripheral arthritis
Peripheral arthritis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7857730
rs7857730 		0.925 0.040 9 5084049 intron variant G/A;T snv 0.63
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs150221602
rs150221602 		1.000 0.040 9 5081828 missense variant G/C snv 4.2E-04 5.4E-04
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs150221602
rs150221602 		1.000 0.040 9 5081828 missense variant G/C snv 4.2E-04 5.4E-04
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2230724
rs2230724 		0.851 0.120 9 5081780 synonymous variant G/A snv 0.53 0.62
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2230724
rs2230724 		0.851 0.120 9 5081780 synonymous variant G/A snv 0.53 0.62
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2230724
rs2230724 		0.851 0.120 9 5081780 synonymous variant G/A snv 0.53 0.62
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2230724
rs2230724 		0.851 0.120 9 5081780 synonymous variant G/A snv 0.53 0.62
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs774709145
rs774709145 		9 5080657 missense variant G/A;C snv 1.3E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1339159756
rs1339159756 		0.925 0.120 9 5078395 missense variant C/G snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017