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: rs3738985
rs3738985 		1.000 0.120 2 44275649 synonymous variant A/C snv 0.72 0.76
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 2000 2000
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: 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: rs1269139353
rs1269139353 		1.000 0.120 2 44275903 missense variant T/G 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: 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: 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: 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: rs1558450604
rs1558450604 		1.000 0.120 2 44275967 splice donor variant T/G snv
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 2 2015 2015
dbSNP: rs778354350
rs778354350 		1.000 0.120 2 44280737 missense variant A/G 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: rs1424215334
rs1424215334 		1.000 0.120 2 44280805 missense variant A/G snv 2.1E-05
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1424215334
rs1424215334 		1.000 0.120 2 44280805 missense variant A/G snv 2.1E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1424215334
rs1424215334 		1.000 0.120 2 44280805 missense variant A/G snv 2.1E-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 2010 2010
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: 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: 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: 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: 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: 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: rs369641941
rs369641941 		0.925 0.120 2 44281423 missense variant C/G;T snv 9.1E-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: 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: 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: rs140433921
rs140433921 		1.000 0.120 2 44286102 start lost T/C snv 2.0E-05 5.6E-05
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
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