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: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C4225418
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0426870
Disease: Large hand
Large hand 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1836047
Disease: Long face
Long face 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1855285
Disease: Protruding ear
Protruding ear 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0