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: rs778291283
rs778291283 		1.000 1 181720261 missense variant A/C;G snv 4.0E-06
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.800 1.000 1 2018 2018
dbSNP: rs886039323
rs886039323 		1.000 1 181651440 missense variant G/A snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.800 1.000 1 2018 2018
dbSNP: rs869312920
rs869312920 		1.000 1 181724488 missense variant T/C snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.800 0
dbSNP: rs10494541
rs10494541 		1.000 0.040 1 181581329 intron variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10797729
rs10797729 		1.000 0.040 1 181570611 intron variant G/A snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10797732
rs10797732 		1.000 0.040 1 181576364 intron variant G/T snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10910937
rs10910937 		1 181428088 intron variant T/C snv 0.11
CUI: C0002418
Disease: Amblyopia
Amblyopia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs10910953
rs10910953 		1 181543317 intron variant G/T snv 0.14
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs10910963
rs10910963 		1.000 0.040 1 181568576 intron variant T/C snv 0.88
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12047212
rs12047212 		1 181602315 intron variant T/C snv 0.82
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs12131800
rs12131800 		1.000 1 181724499 missense variant G/A;C snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.700 1.000 1 2018 2018
dbSNP: rs1361083258
rs1361083258 		1.000 1 181721870 missense variant G/A snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.700 1.000 1 2018 2018
dbSNP: rs1553286282
rs1553286282 		1.000 1 181579138 missense variant T/C snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.700 1.000 1 2018 2018
dbSNP: rs1553345844
rs1553345844 		1.000 1 181757085 missense variant G/A snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.700 1.000 1 2018 2018
dbSNP: rs169235
rs169235 		1.000 0.040 1 181771788 intron variant A/G snv 0.27
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs199928
rs199928 		1 181771065 intron variant T/C snv 0.79
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs3856086
rs3856086 		1 181453299 intron variant T/G snv 0.59
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3905011
rs3905011 		1.000 0.040 1 181576458 intron variant A/G snv 0.58
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6673775
rs6673775 		1 181787206 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6697584
rs6697584 		1 181540582 intron variant T/C snv 0.24
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs71632123
rs71632123 		1 181776565 intron variant C/A snv 3.1E-02
CUI: C0201534
Disease: Antiphospholipid antibodies measurement
Antiphospholipid antibodies measurement 		0.700 1.000 1 2016 2016
dbSNP: rs7524309
rs7524309 		1 181548502 intron variant A/G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs7534913
rs7534913 		1.000 0.040 1 181569136 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs76856191
rs76856191 		1 181616231 intron variant G/A snv 3.0E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs77106231
rs77106231 		1 181691253 intron variant A/C snv 1.7E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018