rs267607165, TUBB3

N. diseases: 18
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.
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
9 0.708 0.520 16 89935679 missense variant G/A;C snv 0.800 1.000 1 2010 2010
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
10 0.708 0.520 16 89935679 missense variant G/A;C snv 0.700 0
Kallmann Syndrome
CUI: C0162809
Disease: Kallmann Syndrome
30 0.708 0.520 16 89935679 missense variant G/A;C snv 0.020 1.000 2 2013 2015
Mobius Syndrome
CUI: C0221060
Disease: Mobius Syndrome
2 0.708 0.520 16 89935679 missense variant G/A;C snv 0.020 1.000 2 2013 2018
Bell Palsy
CUI: C0376175
Disease: Bell Palsy
3 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2018 2018
Congenital Fibrosis of the Extraocular Muscles
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
4 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2015 2015
External Ophthalmoplegia
CUI: C0162292
Disease: External Ophthalmoplegia
6 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2018 2018
Facial paralysis
CUI: C0015469
Disease: Facial paralysis
3 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2018 2018
Facial Paresis
CUI: C0427055
Disease: Facial Paresis
2 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2015 2015
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2015 2015
Hypogonadotropic hypogonadism
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2015 2015
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2013 2013
Klinefelter Syndrome
CUI: C0022735
Disease: Klinefelter Syndrome
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2015 2015
Mixed sensory-motor polyneuropathy
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
8 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2013 2013
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
182 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2018 2018
Syncope, Tussive
CUI: C0234435
Disease: Syncope, Tussive
1 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2018 2018
Vocal Cord Paralysis
CUI: C0042928
Disease: Vocal Cord Paralysis
3 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2013 2013
Vomiting
CUI: C0042963
Disease: Vomiting
23 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2013 2013