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: rs4372063
rs4372063 		1.000 0.080 9 5003338 intron variant G/A;C snv
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs59384377
rs59384377 		1.000 0.080 9 5005034 intron variant A/T snv 0.26
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10815144
rs10815144 		0.882 0.080 9 5010192 intron variant G/A snv 0.62
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs10815144
rs10815144 		0.882 0.080 9 5010192 intron variant G/A snv 0.62
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs10815144
rs10815144 		0.882 0.080 9 5010192 intron variant G/A snv 0.62
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs7046736
rs7046736 		0.925 0.080 9 5015732 intron variant C/A snv 0.39
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs7046736
rs7046736 		0.925 0.080 9 5015732 intron variant C/A snv 0.39
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs759031245
rs759031245 		1.000 0.040 9 5022025 missense variant G/T snv 5.2E-05
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs62541534
rs62541534 		9 5028921 intron variant C/G snv 0.23
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs58788809
rs58788809 		9 5038597 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT delins
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs56118985
rs56118985 		0.882 0.080 9 5044432 missense variant G/A;C snv 1.8E-03; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs56118985
rs56118985 		0.882 0.080 9 5044432 missense variant G/A;C snv 1.8E-03; 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs56118985
rs56118985 		0.882 0.080 9 5044432 missense variant G/A;C snv 1.8E-03; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1319313254
rs1319313254 		9 5050807 missense variant C/T snv 4.0E-06
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1392759936
rs1392759936 		1.000 0.040 9 5054778 missense variant G/A snv 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs771912975
rs771912975 		1.000 0.040 9 5055750 stop gained C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs10815148
rs10815148 		0.882 0.080 9 5057284 intron variant T/A snv 0.33
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10815148
rs10815148 		0.882 0.080 9 5057284 intron variant T/A snv 0.33
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10815148
rs10815148 		0.882 0.080 9 5057284 intron variant T/A snv 0.33
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2149556
rs2149556 		1.000 0.080 9 5059440 intron variant C/T snv 0.64
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12339666
rs12339666 		0.925 0.080 9 5063296 intron variant G/T snv 0.34
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs12339666
rs12339666 		0.925 0.080 9 5063296 intron variant G/T snv 0.34
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12339666
rs12339666 		0.925 0.080 9 5063296 intron variant G/T snv 0.34
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs16922576
rs16922576 		9 5064193 intron variant T/C snv 0.25
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs375678155
rs375678155 		1.000 9 5064922 missense variant G/A;C;T snv 1.7E-05; 1.7E-05; 4.2E-06
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		0.010 1.000 1 2015 2015