INVS, inversin, 27130

N. diseases: 74; N. variants: 14
Disease: NEPHRONOPHTHISIS 2 ×
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: rs121964995
rs121964995 		1.000 0.080 9 100264835 missense variant T/C snv
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 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: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 2003 2013
dbSNP: rs753348470
rs753348470 		1.000 0.080 9 100253125 frameshift variant C/- del 8.4E-05 5.6E-05
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2003 2011
dbSNP: rs121964994
rs121964994 		0.925 0.080 9 100284342 stop gained C/T snv 1.2E-05
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs267607185
rs267607185 		1.000 0.080 9 100292976 stop gained C/A;G;T snv 3.4E-04; 1.6E-05
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0