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: 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: 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: 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: 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: rs7165224
rs7165224 		15 26779189 intron variant T/C snv 0.89
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs890318
rs890318 		15 26737231 intron variant T/C snv 0.89
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3212343
rs3212343 		15 26764379 intron variant T/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs6576611
rs6576611 		15 26789146 intron variant T/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs886037939
rs886037939 		1.000 15 26580456 missense variant T/A snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.800 1.000 6 2013 2017
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: rs3212332
rs3212332 		15 26768806 intron variant T/A snv 0.91
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4906905
rs4906905 		15 26789098 intron variant T/A snv 0.89
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs886037940
rs886037940 		1.000 15 26567671 missense variant G/T snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.800 1.000 6 2013 2017
dbSNP: rs7497827
rs7497827 		15 26788257 intron variant G/T snv 0.91
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs7183073
rs7183073 		15 26788878 intron variant G/C;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4392030
rs4392030 		15 26777184 intron variant G/C snv 0.89
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
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: rs8035503
rs8035503 		15 26748512 intron variant G/A;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
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: 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: 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: 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