TTLL5, tubulin tyrosine ligase like 5, 23093

N. diseases: 34; N. variants: 24
Disease: CONE-ROD DYSTROPHY 19 ×
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: rs199882533
rs199882533 		1.000 14 75764691 stop gained G/A;T snv 2.4E-04
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.800 0
dbSNP: rs1555345387
rs1555345387 		1.000 14 75783325 frameshift variant -/A delins
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 0
dbSNP: rs1555384338
rs1555384338 		1.000 14 75720648 missense variant A/T snv
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 0
dbSNP: rs587777469
rs587777469 		1.000 14 75764648 frameshift variant AGAG/-;AG delins
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 0
dbSNP: rs587777470
rs587777470 		1.000 14 75690221 frameshift variant T/- del 4.0E-06
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 0
dbSNP: rs587777471
rs587777471 		1.000 14 75863694 stop gained G/A snv
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 0