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: rs1569271378
rs1569271378 		X 24703336 missense variant T/G snv
CUI: C4305072
Disease: X-linked intellectual disability Van Esch type
X-linked intellectual disability Van Esch type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1569271892
rs1569271892 		X 24704469 missense variant G/A snv
CUI: C4305072
Disease: X-linked intellectual disability Van Esch type
X-linked intellectual disability Van Esch type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1569277866
rs1569277866 		X 24715139 splice region variant AAAGCTGTAGACTTGTCCAAGGATGGTCTGCTAGGTGACATTCTACAGGATCTTAACACTGAG/- delins
CUI: C4305072
Disease: X-linked intellectual disability Van Esch type
X-linked intellectual disability Van Esch type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1569277899
rs1569277899 		X 24715204 splice donor variant G/A snv
CUI: C4305072
Disease: X-linked intellectual disability Van Esch type
X-linked intellectual disability Van Esch type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1569350993
rs1569350993 		X 24888118 missense variant C/T snv
CUI: C4305072
Disease: X-linked intellectual disability Van Esch type
X-linked intellectual disability Van Esch type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs869312979
rs869312979 		1.000 0.160 X 24726579 intron variant A/G snv
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0