TTC21B, tetratricopeptide repeat domain 21B, 79809

N. diseases: 76; N. variants: 24
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: rs140511594
rs140511594 		0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs766132877
rs766132877 		0.925 0.080 2 165899882 splice acceptor variant T/C snv 2.0E-05 2.8E-05
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0