TTLL5, tubulin tyrosine ligase like 5, 23093

N. diseases: 34; 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: rs267606825
rs267606825 		0.925 0.160 14 75641008 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016