SLC7A9, solute carrier family 7 member 9, 11136

N. diseases: 48; N. variants: 39
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: rs121908480
rs121908480 		1.000 0.120 19 32864261 missense variant C/T snv 2.7E-04 1.7E-04
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 14 1999 2015
dbSNP: rs121908479
rs121908479 		0.925 0.120 19 32862557 missense variant C/T 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 0.800 1.000 11 1999 2012
dbSNP: rs121908482
rs121908482 		1.000 0.120 19 32862482 missense variant C/T 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 0.800 1.000 11 1999 2012
dbSNP: rs121908484
rs121908484 		1.000 0.120 19 32843932 missense variant G/A snv 8.8E-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 0.800 1.000 11 1999 2012
dbSNP: rs121908485
rs121908485 		1.000 0.120 19 32864733 missense variant A/G 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 11 1999 2012
dbSNP: rs121908486
rs121908486 		1.000 0.120 19 32859932 missense variant G/A snv 1.1E-04 1.4E-04
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 11 1999 2012
dbSNP: rs121908487
rs121908487 		1.000 0.120 19 32862127 missense variant T/C snv 1.1E-04 1.2E-04
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 11 1999 2012
dbSNP: rs121908483
rs121908483 		1.000 0.120 19 32859939 missense variant C/T snv 8.0E-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 0.800 1.000 10 1999 2010
dbSNP: rs79389353
rs79389353 		1.000 0.120 19 32862521 missense variant C/A;T snv 4.0E-06; 2.6E-03
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 9 1999 2015
dbSNP: rs79987078
rs79987078 		1.000 0.120 19 32864206 missense variant G/A snv 1.9E-04 2.2E-04
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 9 2001 2017
dbSNP: rs140873167
rs140873167 		1.000 0.120 19 32862151 missense variant G/A;C;T snv 4.0E-05; 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 5 2002 2015
dbSNP: rs12460876
rs12460876 		1.000 0.080 19 32865985 intron variant T/C snv 0.36
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 3 2010 2018
dbSNP: rs1198613438
rs1198613438 		1.000 0.120 19 32864709 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 1.000 10 1999 2010
dbSNP: rs1357600282
rs1357600282 		1.000 0.120 19 32859867 missense variant G/A 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 10 1999 2010
dbSNP: rs1395997436
rs1395997436 		1.000 0.120 19 32864677 missense variant C/T 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 10 1999 2010
dbSNP: rs146815072
rs146815072 		1.000 0.120 19 32830639 missense variant G/A snv 3.6E-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 10 1999 2010
dbSNP: rs368441237
rs368441237 		1.000 0.120 19 32862506 missense variant T/A snv 3.2E-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 10 1999 2010
dbSNP: rs372306844
rs372306844 		1.000 0.120 19 32864198 missense variant C/T snv 2.0E-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 10 1999 2010
dbSNP: rs531029519
rs531029519 		1.000 0.120 19 32862503 missense variant C/G;T snv 4.0E-06; 2.4E-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 10 1999 2010
dbSNP: rs755135545
rs755135545 		1.000 0.120 19 32859857 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 1.000 10 1999 2010
dbSNP: rs760264924
rs760264924 		1.000 0.120 19 32842191 missense variant T/C 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 1.000 10 1999 2010
dbSNP: rs769448665
rs769448665 		1.000 0.120 19 32864655 missense variant G/A snv 2.0E-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 10 1999 2010
dbSNP: rs769576205
rs769576205 		1.000 0.120 19 32843931 missense variant C/T 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 10 1999 2010
dbSNP: rs777371504
rs777371504 		1.000 0.120 19 32860633 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 10 1999 2010
dbSNP: rs745319034
rs745319034 		1.000 0.120 19 32862207 frameshift variant -/T delins 1.4E-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 5 2002 2015