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: 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: rs778000327
rs778000327 		0.925 0.120 2 44280877 frameshift variant G/- del 2.7E-04
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs778000327
rs778000327 		0.925 0.120 2 44280877 frameshift variant G/- del 2.7E-04
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
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: 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: 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: 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
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: 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: 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: rs376639206
rs376639206 		1.000 0.120 2 44320283 missense variant G/A snv 1.6E-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 0.700 0
dbSNP: rs200248046
rs200248046 		1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 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: rs200248046
rs200248046 		1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
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: 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: 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: 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: rs759696513
rs759696513 		1.000 0.120 2 44320332 missense variant G/C 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 0
dbSNP: rs747660493
rs747660493 		1.000 0.120 2 44280820 missense variant G/T snv 1.2E-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 0
dbSNP: rs146630359
rs146630359 		1.000 0.120 2 44275766 synonymous variant T/A snv 2.6E-03 2.6E-03
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
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