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: rs1057518797
rs1057518797
4 88008090 frameshift variant CCCGGGCA/TAGGACG delins
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057518906
rs1057518906
4 88007878 stop gained C/T snv 1.4E-05
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057518969
rs1057518969
4 88036325 frameshift variant CT/- delins
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1553927823
rs1553927823
0.925 0.240 4 88065804 frameshift variant TACG/- delins
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0