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: rs6633421
rs6633421 		1.000 0.080 X 21551802 intron variant A/G snv 0.10
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1569161831
rs1569161831 		1.000 0.200 X 21426661 splice donor variant G/A snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569261319
rs1569261319 		1.000 X 21591098 stop gained G/A snv
CUI: C4538788
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE 		0.700 0
dbSNP: rs606231282
rs606231282 		1.000 X 21440714 frameshift variant -/A delins
CUI: C4538788
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE 		0.700 0
dbSNP: rs771705122
rs771705122 		1.000 0.080 X 21426569 missense variant G/A snv 5.6E-06 9.5E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs904072058
rs904072058 		1.000 X 21606868 stop gained C/A;T snv
CUI: C4538788
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE 		0.700 0