TSPYL1, TSPY like 1, 7259

N. diseases: 42; N. variants: 3
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: rs140756663
rs140756663 		0.925 0.040 6 116278733 missense variant G/T snv 3.6E-03 2.7E-03
CUI: C4324573
Disease: OAT syndrome
OAT syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs140756663
rs140756663 		0.925 0.040 6 116278733 missense variant G/T snv 3.6E-03 2.7E-03
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs201438485
rs201438485 		0.925 0.160 6 116278872 missense variant T/C snv 2.0E-05 2.1E-05
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs201438485
rs201438485 		0.925 0.160 6 116278872 missense variant T/C snv 2.0E-05 2.1E-05
CUI: C0432470
Disease: 46, XY female
46, XY female 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs370116569
rs370116569 		0.925 0.040 6 116279412 missense variant G/C snv 3.2E-05 2.1E-05
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs370116569
rs370116569 		0.925 0.040 6 116279412 missense variant G/C snv 3.2E-05 2.1E-05
CUI: C4324573
Disease: OAT syndrome
OAT syndrome 		0.010 1.000 1 2012 2012