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: rs782001959
rs782001959 		1.000 X 155492384 missense variant C/A snv 2.1E-03
CUI: C3550875
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 		0.800 1.000 2 2011 2012
dbSNP: rs869320708
rs869320708 		1.000 X 155511701 missense variant C/G snv
CUI: C3550875
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 		0.800 1.000 2 2011 2012
dbSNP: rs147751295
rs147751295 		X 155595482 intron variant G/A snv 1.0E-01
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs150926226
rs150926226 		X 155491696 intron variant G/A;C snv
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs782624357
rs782624357 		1.000 X 155506931 frameshift variant AT/- delins
CUI: C3550875
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 		0.700 1.000 1 2015 2015
dbSNP: rs782785654
rs782785654 		1.000 0.120 X 155524537 missense variant G/A snv 5.5E-06 1.9E-05
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs782785654
rs782785654 		1.000 0.120 X 155524537 missense variant G/A snv 5.5E-06 1.9E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs574386
rs574386 		1.000 0.080 X 155617828 intron variant C/G;T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2015 2015