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: rs587777491
rs587777491 		1.000 5 45396521 missense variant C/G snv
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 1.000 3 2014 2018
dbSNP: rs587777492
rs587777492 		1.000 5 45695795 missense variant G/A snv 8.1E-06
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 1.000 3 2014 2018
dbSNP: rs587777493
rs587777493 		1.000 5 45645220 missense variant A/G snv
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 1.000 3 2014 2018
dbSNP: rs587777494
rs587777494 		1.000 5 45461967 missense variant C/G;T snv 4.0E-06
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 1.000 3 2014 2018
dbSNP: rs587777495
rs587777495 		1.000 5 45645199 missense variant G/A snv
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 1.000 3 2014 2018
dbSNP: rs1057519547
rs1057519547 		0.925 0.040 5 45396550 missense variant C/T snv
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 0
dbSNP: rs1057519548
rs1057519548 		0.925 0.040 5 45645575 missense variant C/G snv
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 0
dbSNP: rs9292918
rs9292918 		1.000 0.040 5 45300933 intron variant T/C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 4 2017 2019
dbSNP: rs544994462
rs544994462 		1.000 5 45695954 missense variant C/A snv 6.6E-03 3.6E-03
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.700 1.000 3 2014 2018
dbSNP: rs1501357
rs1501357 		1.000 0.040 5 45364773 intron variant T/C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2014 2015
dbSNP: rs139424826
rs139424826 		1.000 0.080 5 45522877 intron variant C/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs16902086
rs16902086 		1.000 0.040 5 45285650 intron variant A/G snv 0.47
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs2589161
rs2589161 		1.000 0.080 5 45653810 intron variant T/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs55821517
rs55821517 		1.000 0.080 5 45333758 intron variant T/C snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs9292918
rs9292918 		1.000 0.040 5 45300933 intron variant T/C;G snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1057519547
rs1057519547 		0.925 0.040 5 45396550 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519548
rs1057519548 		0.925 0.040 5 45645575 missense variant C/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1554037381
rs1554037381 		1.000 5 45645333 missense variant T/A snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs1554040120
rs1554040120 		1.000 5 45695680 frameshift variant G/- del
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.700 0
dbSNP: rs981782
rs981782 		0.851 0.080 5 45285616 intron variant A/C snv 0.34
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2012 2016
dbSNP: rs981782
rs981782 		0.851 0.080 5 45285616 intron variant A/C snv 0.34
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2012 2016
dbSNP: rs10462087
rs10462087 		0.925 0.040 5 45295178 intron variant T/C snv 5.5E-02
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10462087
rs10462087 		0.925 0.040 5 45295178 intron variant T/C snv 5.5E-02
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs981782
rs981782 		0.851 0.080 5 45285616 intron variant A/C snv 0.34
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs981782
rs981782 		0.851 0.080 5 45285616 intron variant A/C snv 0.34
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.010 1.000 1 2016 2016