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: rs200248046
rs200248046 		1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06
CUI: C0268643
Disease: Cystinuria type 1
Cystinuria type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs200287661
rs200287661 		1.000 0.120 2 44301012 missense variant A/C;G snv 8.0E-06 2.1E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs756887216
rs756887216 		1.000 0.120 2 44301034 missense variant A/C 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 0
dbSNP: rs1320457487
rs1320457487 		1.000 0.120 2 44301057 missense variant G/A snv 8.0E-06
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1320457487
rs1320457487 		1.000 0.120 2 44301057 missense variant G/A snv 8.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1320457487
rs1320457487 		1.000 0.120 2 44301057 missense variant G/A snv 8.0E-06
CUI: C0268643
Disease: Cystinuria type 1
Cystinuria type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1553344107
rs1553344107 		1.000 0.120 2 44301059 frameshift variant -/ATGCACGACATTGTCC delins
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs375399468
rs375399468 		1.000 0.120 2 44301075 missense variant C/G;T snv 4.0E-06; 6.8E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
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: 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: 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: rs1297802490
rs1297802490 		1.000 0.120 2 44304198 missense variant G/A 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 0
dbSNP: rs797044609
rs797044609 		1.000 0.120 2 44304280 frameshift variant -/TG delins
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs187962930
rs187962930 		1.000 0.120 2 44312587 missense variant T/C snv 2.0E-05 2.8E-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 1 2012 2012
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: 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: rs949704245
rs949704245 		1.000 0.120 2 44312617 missense variant C/G;T snv 1.2E-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 0.700 0
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: 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: 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: rs561079654
rs561079654 		1.000 0.120 2 44312643 missense variant G/A snv 2.0E-04 2.8E-05
CUI: C0268643
Disease: Cystinuria type 1
Cystinuria type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2000 2000
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: rs121912691
rs121912691 		0.925 0.120 2 44312653 missense variant T/A;C snv 9.2E-05; 2.5E-03
CUI: C0268643
Disease: Cystinuria type 1
Cystinuria type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1997 1997
dbSNP: rs1032513393
rs1032513393 		1.000 0.120 2 44313856 missense variant C/G 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 0
dbSNP: rs778925791
rs778925791 		1.000 0.120 2 44313863 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