CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
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: rs1557194090
rs1557194090 		1.000 X 50086864 frameshift variant C/- del
CUI: C4024644
Disease: Multiple small medullary renal cysts
Multiple small medullary renal cysts 		0.700 0
dbSNP: rs1557194090
rs1557194090 		1.000 X 50086864 frameshift variant C/- del
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1557194090
rs1557194090 		1.000 X 50086864 frameshift variant C/- del
CUI: C1839606
Disease: Low-molecular-weight proteinuria
Low-molecular-weight proteinuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs781790886
rs781790886 		0.925 0.040 X 50086536 missense variant G/A snv 1.3E-04
CUI: C0271728
Disease: Secondary hyperaldosteronism
Secondary hyperaldosteronism 		Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs781790886
rs781790886 		0.925 0.040 X 50086536 missense variant G/A snv 1.3E-04
CUI: C0740898
Disease: Hypokalemic metabolic alkalosis
Hypokalemic metabolic alkalosis 		0.010 1.000 1 2010 2010
dbSNP: rs144207967
rs144207967 		1.000 0.120 X 50090706 missense variant C/G snv 2.1E-04 1.0E-03
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 14 1996 2011
dbSNP: rs151340622
rs151340622 		1.000 0.120 X 50081723 missense variant T/G snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 14 1996 2011
dbSNP: rs151340623
rs151340623 		1.000 0.120 X 50090139 missense variant T/C snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 14 1996 2011
dbSNP: rs151340629
rs151340629 		0.925 0.120 X 50072553 missense variant G/T snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 14 1996 2011
dbSNP: rs151340630
rs151340630 		0.925 0.120 X 50086035 missense variant G/T snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 14 1996 2011
dbSNP: rs273585650
rs273585650 		0.925 0.120 X 50090220 missense variant T/G snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 14 1996 2011
dbSNP: rs797044813
rs797044813 		1.000 0.120 X 50090490 stop gained C/T snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 8 2001 2014
dbSNP: rs151340621
rs151340621 		1.000 0.120 X 50090678 stop gained C/A;T snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 1996 2009
dbSNP: rs797044810
rs797044810 		1.000 0.120 X 50086562 stop gained C/T snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 1997 2014
dbSNP: rs797044811
rs797044811 		1.000 0.120 X 50088749 stop gained C/T snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 2005 2009
dbSNP: rs797044812
rs797044812 		1.000 0.120 X 50090127 missense variant C/T snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 1997 2014
dbSNP: rs797044809
rs797044809 		1.000 0.120 X 50086359 stop gained G/A snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 1996 2014
dbSNP: rs797044814
rs797044814 		1.000 0.120 X 50092130 stop gained C/T snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2003 2009
dbSNP: rs151340628
rs151340628 		0.925 0.120 X 50086362 missense variant G/A;C snv 1.1E-05
CUI: C1839874
Disease: Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 3 1997 2009
dbSNP: rs1254229398
rs1254229398 		1.000 0.120 X 50086428 missense variant G/A;T snv
CUI: C0878681
Disease: Dent's disease
Dent's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs151340624
rs151340624 		0.851 0.120 X 50090846 stop gained C/T snv
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1999 1999
dbSNP: rs151340624
rs151340624 		0.851 0.120 X 50090846 stop gained C/T snv
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1999 1999
dbSNP: rs151340624
rs151340624 		0.851 0.120 X 50090846 stop gained C/T snv
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1999 1999
dbSNP: rs151340625
rs151340625 		0.925 0.120 X 50088867 missense variant G/A snv
CUI: C0403720
Disease: X-linked recessive nephrolithiasis with renal failure
X-linked recessive nephrolithiasis with renal failure 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 1996 1996
dbSNP: rs151340628
rs151340628 		0.925 0.120 X 50086362 missense variant G/A;C snv 1.1E-05
CUI: C0878681
Disease: Dent's disease
Dent's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009