Disease: Klinefelter 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: rs104893836
rs104893836 		0.790 0.160 4 67754019 missense variant T/C snv 2.8E-03 2.3E-03
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 2000 2009
dbSNP: rs104893844
rs104893844 		0.882 0.160 4 67754068 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs148499544
rs148499544 		0.882 0.160 4 67740670 missense variant A/C snv 8.0E-06 5.6E-05
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		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: rs74452732
rs74452732 		0.851 0.160 4 67753825 missense variant C/A;T snv 4.0E-06
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs750566506
rs750566506 		0.925 0.160 4 67754013 missense variant T/C snv
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011