HPSE2, heparanase 2 (inactive), 60495

N. diseases: 81; N. variants: 46
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: rs767720704
rs767720704 		1.000 10 98459662 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia 		0.010 1.000 1 2003 2003
dbSNP: rs397515452
rs397515452 		1.000 0.120 10 98459725 missense variant T/A snv
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs72838936
rs72838936 		10 98480617 intron variant C/T snv 9.4E-02
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs748636374
rs748636374 		1.000 10 98482732 missense variant C/T snv 8.0E-06
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia 		0.010 1.000 1 2003 2003
dbSNP: rs267606866
rs267606866 		1.000 0.120 10 98482733 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs397515338
rs397515338 		1.000 0.120 10 98490051 frameshift variant TT/- del 1.8E-04
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs267606864
rs267606864 		1.000 0.120 10 98490103 stop gained G/A;C snv 8.0E-06
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs17459507
rs17459507 		1.000 0.040 10 98529811 intron variant T/C snv 3.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs898892
rs898892 		1.000 0.040 10 98533943 intron variant T/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10786436
rs10786436 		1.000 0.120 10 98540425 intron variant C/T snv 0.40
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs12219674
rs12219674 		1.000 0.040 10 98551693 intron variant T/C snv 5.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs621644
rs621644 		1.000 0.040 10 98551910 intron variant G/A snv 0.41
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2018085
rs2018085 		1.000 0.040 10 98553285 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs650527
rs650527 		1.000 0.040 10 98553806 intron variant C/T snv 0.40
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7907389
rs7907389 		1.000 0.040 10 98554582 intron variant G/A snv 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10509724
rs10509724 		1.000 0.040 10 98555795 intron variant C/T snv 9.8E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10883130
rs10883130 		1.000 0.040 10 98558310 intron variant C/T snv 0.45
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs541519
rs541519 		1.000 0.040 10 98558679 intron variant A/G snv 0.85
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10748739
rs10748739 		1.000 0.040 10 98558936 intron variant C/T snv 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs489611
rs489611 		1.000 0.040 10 98559036 intron variant T/C snv 0.40
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17538604
rs17538604 		1.000 0.040 10 98560162 intron variant C/T snv 7.1E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs660426
rs660426 		1.000 0.040 10 98560374 intron variant C/T snv 0.85
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs558398
rs558398 		1.000 0.040 10 98561991 intron variant T/C snv 0.84
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs537851
rs537851 		1.000 0.040 10 98564824 intron variant T/C snv 0.84
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs552644
rs552644 		1.000 0.040 10 98565888 intron variant T/G snv 0.84
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017