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: rs136872
rs136872 		22 31885582 intron variant A/G snv 0.94
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs527479125
rs527479125 		1.000 22 31845200 missense variant G/A;T snv 8.0E-06
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.010 1.000 1 2019 2019
dbSNP: rs748813142
rs748813142 		1.000 22 31754941 missense variant A/G snv 6.0E-05 7.0E-06
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.010 1.000 1 2019 2019
dbSNP: rs754059546
rs754059546 		1.000 22 31845227 missense variant G/A snv 1.2E-05
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.010 1.000 1 2019 2019
dbSNP: rs112699334
rs112699334 		22 31855624 intron variant T/C snv 2.2E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs136867
rs136867 		1.000 0.080 22 31876672 intron variant G/A;C;T snv
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 2018 2018
dbSNP: rs1383795440
rs1383795440 		1.000 0.040 22 31754865 5 prime UTR variant G/C snv 7.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs149401731
rs149401731 		22 31812413 intron variant C/T snv 2.4E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1555897392
rs1555897392 		1.000 0.040 22 31838822 protein altering variant -/AGA ins
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs187334123
rs187334123 		1.000 0.040 22 31797646 missense variant G/A;T snv 2.2E-03; 1.6E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs587777459
rs587777459 		0.882 0.040 22 31815005 stop gained C/G;T snv 2.0E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs768456731
rs768456731 		0.925 0.040 22 31765049 missense variant G/A;T snv 1.6E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs886039266
rs886039266 		0.925 0.040 22 31870703 frameshift variant A/- del
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs886039278
rs886039278 		1.000 0.040 22 31815000 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs147481775
rs147481775 		1.000 0.120 22 31829377 intron variant C/A snv 6.6E-03
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs147481775
rs147481775 		1.000 0.120 22 31829377 intron variant C/A snv 6.6E-03
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs147481775
rs147481775 		1.000 0.120 22 31829377 intron variant C/A snv 6.6E-03
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2017 2017
dbSNP: rs78212183
rs78212183 		0.925 0.120 22 31817998 intron variant T/C snv 1.1E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs78212183
rs78212183 		0.925 0.120 22 31817998 intron variant T/C snv 1.1E-02
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs886039269
rs886039269 		0.925 0.040 22 31879713 stop gained C/T snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2016 2016
dbSNP: rs886039269
rs886039269 		0.925 0.040 22 31879713 stop gained C/T snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2016 2016
dbSNP: rs780960812
rs780960812 		1.000 0.040 22 31821540 stop gained C/T snv 1.6E-05 3.5E-05
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886039247
rs886039247 		1.000 0.040 22 31778120 stop gained G/A snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886039250
rs886039250 		1.000 0.040 22 31783912 frameshift variant TCGTT/- delins
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886039251
rs886039251 		1.000 0.040 22 31783949 stop gained C/T snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 1 2016 2016