rs1569301036, TAF1

N. diseases: 17
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.
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Kyphosis deformity of spine
CUI: C0022821
Disease: Kyphosis deformity of spine
10 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Large hand
CUI: C0426870
Disease: Large hand
7 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Long face
CUI: C1836047
Disease: Long face
12 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Long philtrum
CUI: C1865014
Disease: Long philtrum
16 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
CUI: C4225418
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
7 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Oropharyngeal Dysphagia
CUI: C0267071
Disease: Oropharyngeal Dysphagia
8 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Pointed chin
CUI: C1844505
Disease: Pointed chin
13 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Prominent supraorbital ridges
CUI: C1842060
Disease: Prominent supraorbital ridges
10 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Protruding ear
CUI: C1855285
Disease: Protruding ear
6 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0