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: rs121913246
rs121913246
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C2608055
Disease: Hereditary Renal Cell Carcinoma
Hereditary Renal Cell Carcinoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2000 2002
dbSNP: rs121913243
rs121913243
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C2608055
Disease: Hereditary Renal Cell Carcinoma
Hereditary Renal Cell Carcinoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2002 2002