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: rs964489627
rs964489627 		1.000 0.120 19 32864680 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 0
dbSNP: rs939028046
rs939028046 		1.000 0.120 19 32843869 missense variant C/T snv 1.6E-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 0
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: 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: 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: rs774878350
rs774878350 		1.000 0.120 19 32842248 missense variant C/A;T snv 4.0E-06; 4.4E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
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: 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: rs768466784
rs768466784 		1.000 0.120 19 32843937 missense variant G/A;C snv 1.6E-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: rs766529640
rs766529640 		1.000 0.120 19 32860606 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 0.700 0
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: 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: 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
dbSNP: rs7252778
rs7252778 		1.000 0.080 19 32869463 intron variant C/A;T snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7252778
rs7252778 		1.000 0.080 19 32869463 intron variant C/A;T snv
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
dbSNP: rs7252778
rs7252778 		1.000 0.080 19 32869463 intron variant C/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs7247977
rs7247977 		19 32867449 intron variant T/C snv 0.46
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 2 2017 2018
dbSNP: rs7247977
rs7247977 		19 32867449 intron variant T/C snv 0.46
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2017 2019
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: 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: 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: 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
dbSNP: rs35975406
rs35975406 		1.000 0.080 19 32866527 intron variant G/C;T snv 0.46
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
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: 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