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: rs12908713
rs12908713 		15 82673629 intron variant A/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs186017271
rs186017271 		15 82699853 missense variant G/A snv 8.7E-03
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs28737193
rs28737193 		15 82701318 intron variant C/T snv 0.16
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs4779046
rs4779046 		15 82674020 intron variant A/G snv 0.80
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4779051
rs4779051 		15 82701419 intron variant A/C snv 0.80
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1057519269
rs1057519269 		0.925 0.040 15 82679729 splice region variant C/T snv
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		0.700 0
dbSNP: rs1057519269
rs1057519269 		0.925 0.040 15 82679729 splice region variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519270
rs1057519270 		0.925 0.040 15 82680174 splice donor variant C/G snv
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		0.700 0
dbSNP: rs1057519270
rs1057519270 		0.925 0.040 15 82680174 splice donor variant C/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519271
rs1057519271 		1.000 15 82663149 frameshift variant AGTG/- delins 8.1E-06
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		0.700 0
dbSNP: rs1057519272
rs1057519272 		1.000 15 82666762 frameshift variant C/- delins
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		0.700 0
dbSNP: rs775024756
rs775024756 		1.000 15 82689223 stop gained G/A snv 4.0E-06
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		0.700 0