SLC3A1, solute carrier family 3 member 1, 6519

N. diseases: 84; N. variants: 54
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: rs121912691
rs121912691 		0.925 0.120 2 44312653 missense variant T/A;C snv 9.2E-05; 2.5E-03
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.840 1.000 28 1994 2017
dbSNP: rs201502095
rs201502095 		1.000 0.120 2 44312607 missense variant C/A;G;T snv 8.0E-06; 8.4E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 17 1994 2015
dbSNP: rs121912693
rs121912693 		1.000 0.120 2 44320614 missense variant T/C snv
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 1994 2012
dbSNP: rs121912694
rs121912694 		1.000 0.120 2 44280827 missense variant G/A;T snv 1.6E-05; 8.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 1994 2012
dbSNP: rs121912695
rs121912695 		1.000 0.120 2 44320536 missense variant C/G;T snv 1.2E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 1994 2012
dbSNP: rs121912696
rs121912696 		1.000 0.120 2 44320424 missense variant C/A;T snv 1.6E-05; 4.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 1994 2012
dbSNP: rs121912697
rs121912697 		1.000 0.120 2 44301076 missense variant G/A snv 3.6E-05 7.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 1994 2012
dbSNP: rs369641941
rs369641941 		0.925 0.120 2 44281423 missense variant C/G;T snv 9.1E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 13 1994 2013
dbSNP: rs200483989
rs200483989 		1.000 0.120 2 44286074 stop gained C/T snv 3.9E-04 1.9E-04
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 6 1995 2009
dbSNP: rs1233216697
rs1233216697 		1.000 0.120 2 44280833 missense variant T/C snv 7.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs139251285
rs139251285 		1.000 0.120 2 44312619 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs140317484
rs140317484 		1.000 0.120 2 44280851 missense variant C/A;T snv 8.0E-06; 2.7E-03
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs141944551
rs141944551 		1.000 0.120 2 44320380 missense variant G/A snv 8.0E-05 9.1E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs144162964
rs144162964 		1.000 0.120 2 44312634 missense variant T/C snv 8.2E-04 4.3E-04
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs1453871309
rs1453871309 		1.000 0.120 2 44275801 missense variant T/C snv 4.0E-05 3.5E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs146963107
rs146963107 		1.000 0.120 2 44320377 missense variant T/C snv 4.8E-05 4.2E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs368796166
rs368796166 		1.000 0.120 2 44320221 stop gained C/A;G;T snv 2.0E-05; 3.6E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs373852467
rs373852467 		1.000 0.120 2 44312620 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs567478582
rs567478582 		1.000 0.120 2 44301085 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 8.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs576810133
rs576810133 		1.000 0.120 2 44275918 missense variant C/A;T snv 4.0E-06; 2.0E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs750912461
rs750912461 		1.000 0.120 2 44312608 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs757239030
rs757239030 		1.000 0.120 2 44286068 missense variant G/A snv 1.2E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs765828196
rs765828196 		1.000 0.120 2 44301084 missense variant C/T snv 2.0E-05 4.9E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs766947722
rs766947722 		1.000 0.120 2 44275906 missense variant A/G snv 4.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010
dbSNP: rs768848958
rs768848958 		1.000 0.120 2 44275953 missense variant G/A snv 8.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 1994 2010