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: rs10421876
rs10421876 		19 32871878 upstream gene variant C/T snv 0.36
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1060499787
rs1060499787 		1.000 0.120 19 32860605 splice donor variant C/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 0
dbSNP: rs1085307095
rs1085307095 		1.000 0.120 19 32864778 splice acceptor variant T/C 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 2 2005 2005
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: 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: rs121908479
rs121908479 		0.925 0.120 19 32862557 missense variant C/T snv 4.0E-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 2000 2000
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: 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: 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: 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: 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: rs12460876
rs12460876 		1.000 0.080 19 32865985 intron variant T/C snv 0.36
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2010 2018
dbSNP: rs12460876
rs12460876 		1.000 0.080 19 32865985 intron variant T/C snv 0.36
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 2 2010 2016
dbSNP: rs12460876
rs12460876 		1.000 0.080 19 32865985 intron variant T/C snv 0.36
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
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: 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: rs142270619
rs142270619 		1.000 0.120 19 32842255 missense variant G/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: 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: rs201618022
rs201618022 		1.000 0.120 19 32843941 missense variant C/A;T snv 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 1 2012 2012
dbSNP: rs2868194
rs2868194 		19 32859154 intron variant T/C snv 0.63
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs35975406
rs35975406 		1.000 0.080 19 32866527 intron variant G/C;T snv 0.46
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018