Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs727502810
rs727502810
TUB ; RIC3
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins
CUI: C4015424
Disease: RETINAL DYSTROPHY AND OBESITY
RETINAL DYSTROPHY AND OBESITY 		0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0