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: rs1057519201
rs1057519201 		1.000 15 26621395 missense variant T/C snv
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 1.000 1 2017 2017
dbSNP: rs1057519201
rs1057519201 		1.000 15 26621395 missense variant T/C snv
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1 		0.700 1.000 1 2017 2017
dbSNP: rs1057519549
rs1057519549 		0.925 0.040 15 26567655 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519549
rs1057519549 		0.925 0.040 15 26567655 missense variant G/A snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 0
dbSNP: rs1057519550
rs1057519550 		0.925 0.040 15 26621403 missense variant T/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519550
rs1057519550 		0.925 0.040 15 26621403 missense variant T/G snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 0
dbSNP: rs1064794797
rs1064794797 		1.000 15 26772403 missense variant A/C;G snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 0
dbSNP: rs1064796514
rs1064796514 		1.000 15 26567658 missense variant G/A;T snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 0
dbSNP: rs11161335
rs11161335 		15 26758948 intron variant T/A snv 0.48
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11631129
rs11631129 		15 26732026 intron variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs11636988
rs11636988 		1.000 0.040 15 26577667 intron variant G/A snv 0.43
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs12440086
rs12440086 		15 26793345 intron variant C/A snv 0.42
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs12910337
rs12910337 		15 26748096 intron variant C/T snv 0.91
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1426217
rs1426217 		1.000 0.040 15 26575978 intron variant A/G snv 0.46
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs1432007
rs1432007 		15 26565542 intron variant A/G;T snv 0.53
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1555401440
rs1555401440 		1.000 15 26561149 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 2008 2017
dbSNP: rs1555401440
rs1555401440 		1.000 15 26561149 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2008 2017
dbSNP: rs1555401440
rs1555401440 		1.000 15 26561149 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 11 2008 2017
dbSNP: rs1555401942
rs1555401942 		15 26567650 missense variant G/C snv
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs1567106381
rs1567106381 		1.000 15 26561117 missense variant T/G snv
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1 		0.700 0
dbSNP: rs1567106381
rs1567106381 		1.000 15 26561117 missense variant T/G snv
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs20317
rs20317 		1.000 0.040 15 26773790 intron variant G/A;C;T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs2081648
rs2081648 		1.000 0.040 15 26553052 intron variant T/C snv 0.12
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs25409
rs25409 		0.882 0.080 15 26773694 missense variant G/A snv 2.9E-03 3.5E-03
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		Nervous System Diseases 0.020 1.000 2 2008 2011
dbSNP: rs25409
rs25409 		0.882 0.080 15 26773694 missense variant G/A snv 2.9E-03 3.5E-03
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		Nervous System Diseases 0.020 1.000 2 2008 2011