NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
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: rs190940697
rs190940697 		1.000 0.080 1 5947199 missense variant G/A snv 1.6E-03 1.2E-03
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs191913664
rs191913664 		1.000 0.080 1 5890969 missense variant G/A snv 4.0E-04 9.5E-04
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs201779243
rs201779243 		1.000 0.080 1 5864475 missense variant G/C snv 1.5E-04 3.3E-04
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs398124289
rs398124289 		1.000 0.080 1 5874973 frameshift variant -/GAGCG delins 1.2E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs779755743
rs779755743 		1.000 0.080 1 5864484 missense variant G/A snv 1.8E-04 9.8E-05
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0