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: rs863225437
rs863225437 		0.882 0.080 2 173232359 missense variant T/G snv
CUI: C4225167
Disease: SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY 		0.800 1.000 1 2016 2016
dbSNP: rs722864
rs722864 		0.882 0.080 2 173118476 intron variant A/C;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.710 1.000 2 2017 2018
dbSNP: rs763481300
rs763481300 		1.000 2 173209732 missense variant C/T snv 4.1E-06 2.1E-05
CUI: C4540345
Disease: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION 		0.700 1.000 2 2017 2019
dbSNP: rs10193498
rs10193498 		2 173229617 intron variant A/C;T snv 0.32
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs6758859
rs6758859 		2 173100328 intron variant T/C snv 0.43
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs7575189
rs7575189 		2 173150440 intron variant G/A snv 0.45
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1293675104
rs1293675104 		1.000 2 173191085 frameshift variant AT/- del 7.0E-06
CUI: C4540345
Disease: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION 		0.700 0
dbSNP: rs1553576774
rs1553576774 		1.000 2 173182886 frameshift variant -/T delins
CUI: C4540345
Disease: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION 		0.700 0
dbSNP: rs1553578407
rs1553578407 		1.000 2 173191110 stop gained G/A snv
CUI: C4540345
Disease: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION 		0.700 0
dbSNP: rs863225437
rs863225437 		0.882 0.080 2 173232359 missense variant T/G snv
CUI: C0432028
Disease: Split foot
Split foot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs863225437
rs863225437 		0.882 0.080 2 173232359 missense variant T/G snv
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs3769201
rs3769201 		0.882 0.080 2 173091813 intron variant T/C snv 0.77
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3769201
rs3769201 		0.882 0.080 2 173091813 intron variant T/C snv 0.77
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3769201
rs3769201 		0.882 0.080 2 173091813 intron variant T/C snv 0.77
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs722864
rs722864 		0.882 0.080 2 173118476 intron variant A/C;G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs722864
rs722864 		0.882 0.080 2 173118476 intron variant A/C;G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018