Source: ALL

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: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		0.800 1.000 1 2010 2010
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.700 0
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.020 1.000 2 2013 2015
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		0.020 1.000 2 2013 2018
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0376175
Disease: Bell Palsy
Bell Palsy 		0.010 1.000 1 2018 2018
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2015 2015
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.010 1.000 1 2018 2018
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2013 2013
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0042963
Disease: Vomiting
Vomiting 		0.010 1.000 1 2013 2013
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.010 1.000 1 2015 2015
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		0.010 1.000 1 2018 2018
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 1.000 1 2018 2018
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		0.010 1.000 1 2015 2015
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		0.010 1.000 1 2015 2015
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
Mixed sensory-motor polyneuropathy 		0.010 1.000 1 2013 2013
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0234435
Disease: Syncope, Tussive
Syncope, Tussive 		0.010 1.000 1 2018 2018
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		0.010 1.000 1 2013 2013
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.010 1.000 1 2015 2015