HPSE2, heparanase 2 (inactive), 60495

N. diseases: 81; N. variants: 46
Disease: Ochoa syndrome ×
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: rs267606865
rs267606865 		1.000 0.120 10 99144391 stop gained G/A snv 1.2E-05
CUI: C0403555
Disease: Ochoa syndrome
Ochoa syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 1 2015 2015
dbSNP: rs1469962264
rs1469962264 		1.000 0.120 10 99235561 frameshift variant AG/- delins
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: 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: 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: rs778121647
rs778121647 		1.000 0.120 10 99235745 frameshift variant -/G delins 2.8E-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