Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864321627
rs864321627 		1.000 X 71401691 missense variant T/C snv
CUI: C4225418
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 		0.800 1.000 1 2015 2015
dbSNP: rs864321628
rs864321628 		1.000 X 71387393 missense variant T/C snv
CUI: C4225418
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 		0.800 1.000 1 2015 2015
dbSNP: rs864321629
rs864321629 		1.000 X 71398627 missense variant C/T snv
CUI: C4225418
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 		0.800 1.000 1 2015 2015
dbSNP: rs864321630
rs864321630 		1.000 X 71382821 missense variant C/T snv
CUI: C4225418
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 		0.800 1.000 1 2015 2015
dbSNP: rs864321631
rs864321631 		1.000 X 71392653 missense variant G/C snv
CUI: C4225418
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 		0.800 1.000 1 2015 2015
dbSNP: rs1555980523
rs1555980523 		1.000 X 71407993 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 		0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs1569301036
rs1569301036 		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 		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 		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 		0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1836047
Disease: Long face
Long face 		0.700 0
dbSNP: rs1569301036
rs1569301036 		0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs1569301036
rs1569301036 		0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1569301036
rs1569301036 		0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.700 0
dbSNP: rs1569301036
rs1569301036 		0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0426870
Disease: Large hand
Large hand 		0.700 0
dbSNP: rs1569301036
rs1569301036 		0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1569301036
rs1569301036 		0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1569301036
rs1569301036 		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 		0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.700 0
dbSNP: rs1569301036
rs1569301036 		0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1855285
Disease: Protruding ear
Protruding ear 		0.700 0
dbSNP: rs1569301036
rs1569301036 		0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 0
dbSNP: rs1569301036
rs1569301036 		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 		0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs397509359
rs397509359 		1.000 0.080 X 71529785 3 prime UTR variant C/A;T snv
CUI: C1839130
Disease: Dystonia 3, Torsion, X-Linked
Dystonia 3, Torsion, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1194327405
rs1194327405 		1.000 0.160 X 71377774 missense variant G/A snv 1.1E-05
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009