rs1555669248, TUBB6

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION
CUI: C4540277
Disease: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION
1 0.807 0.280 18 12325970 missense variant T/C snv 0.700 1.000 1 2017 2017
Bell Palsy
CUI: C0376175
Disease: Bell Palsy
3 0.807 0.280 18 12325970 missense variant T/C snv 0.010 1.000 1 2017 2017
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.807 0.280 18 12325970 missense variant T/C snv 0.010 1.000 1 2017 2017
Congenital velopharyngeal dysfunction
CUI: C3840081
Disease: Congenital velopharyngeal dysfunction
1 0.807 0.280 18 12325970 missense variant T/C snv 0.010 1.000 1 2017 2017
Facial paralysis
CUI: C0015469
Disease: Facial paralysis
3 0.807 0.280 18 12325970 missense variant T/C snv 0.010 1.000 1 2017 2017
Ptosis
CUI: C0033377
Disease: Ptosis
12 0.807 0.280 18 12325970 missense variant T/C snv 0.010 1.000 1 2017 2017