CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Disease: Dent disease 1 ×
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: 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: 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: 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: 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: 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: rs151340626
rs151340626 		0.827 0.200 X 50085987 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 6 1996 2014
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: rs797044808
rs797044808 		0.925 0.200 X 50070025 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 1998 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: rs1569540047
rs1569540047 		1.000 0.120 X 50072517 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 1 2004 2004
dbSNP: rs1049618423
rs1049618423 		1.000 0.120 X 50070007 stop gained C/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 0
dbSNP: rs151340620
rs151340620 		0.925 0.120 X 50086360 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 0
dbSNP: rs1557192084
rs1557192084 		1.000 0.120 X 50075954 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 0
dbSNP: rs1557194353
rs1557194353 		1.000 0.120 X 50088816 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 0
dbSNP: rs1569540369
rs1569540369 		1.000 0.120 X 50086709 missense variant G/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 0.700 0
dbSNP: rs1569540382
rs1569540382 		1.000 0.120 X 50086871 splice donor 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 0