INVS, inversin, 27130

N. diseases: 74; N. variants: 14
Disease: Nephronophthisis ×
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: rs121964994
rs121964994 		0.925 0.080 9 100284342 stop gained C/T snv 1.2E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2003 2011
dbSNP: rs1322951938
rs1322951938 		1.000 0.080 9 100293045 splice donor variant T/C;G snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2003 2003
dbSNP: rs200844390
rs200844390 		0.925 0.080 9 100292952 stop gained C/A;T snv 1.6E-05; 4.8E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs376879175
rs376879175 		1.000 0.080 9 100293039 stop gained C/A;T snv 1.2E-05; 1.6E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs878855332
rs878855332 		1.000 0.080 9 100253088 frameshift variant G/- delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs878855333
rs878855333 		1.000 0.080 9 100300600 frameshift variant A/- delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1425211517
rs1425211517 		1.000 0.080 9 100297017 stop gained C/T snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs150001738
rs150001738 		1.000 0.080 9 100284591 stop gained A/G;T snv 3.1E-04 3.3E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1564123602
rs1564123602 		1.000 0.080 9 100126450 frameshift variant -/CAGA delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0