Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs144332569
rs144332569
SLC13A5
1.000 17 6703031 missense variant C/T snv 1.6E-04 8.4E-05
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.800 1.000 7 2014 2017
dbSNP: rs761917087
rs761917087
SLC13A5
1.000 17 6704000 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.800 1.000 3 2014 2017
dbSNP: rs587777577
rs587777577
SLC13A5
1.000 17 6703006 missense variant G/A snv 2.4E-05 4.2E-05
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.800 1.000 2 2014 2015
dbSNP: rs587777578
rs587777578
SLC13A5 ; C17orf100 ; ALOX15P1
1.000 17 6687641 missense variant A/G snv
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.800 1.000 2 2014 2015
dbSNP: rs863225448
rs863225448
SLC13A5 ; C17orf100 ; ALOX15P1
1.000 17 6687534 missense variant C/G snv
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.800 1.000 2 2014 2015
dbSNP: rs548065551
rs548065551
SLC13A5 ; C17orf100 ; ALOX15P1
1.000 17 6690936 missense variant G/A snv 4.1E-06 7.0E-06
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.800 0
dbSNP: rs1057519449
rs1057519449
SLC13A5 ; C17orf100 ; ALOX15P1
1.000 17 6687629 missense variant A/G snv
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.700 1.000 2 2016 2017
dbSNP: rs150203483
rs150203483
SLC13A5
1.000 17 6695759 stop gained C/T snv 2.0E-05 7.0E-06
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.700 1.000 1 2015 2015
dbSNP: rs1555541483
rs1555541483
SLC13A5
1.000 17 6694096 splice donor variant C/T snv
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.700 1.000 1 2014 2014
dbSNP: rs172642
rs172642
SLC13A5 ; C17orf100 ; ALOX15P1
17 6692079 intron variant A/C snv 0.64
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2016 2016
dbSNP: rs172642
rs172642
SLC13A5 ; C17orf100 ; ALOX15P1
17 6692079 intron variant A/C snv 0.64
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2016 2016
dbSNP: rs730882222
rs730882222
SLC13A5
0.925 0.040 17 6707026 splice donor variant A/C snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.700 0
dbSNP: rs730882222
rs730882222
SLC13A5
0.925 0.040 17 6707026 splice donor variant A/C snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs730882222
rs730882222
SLC13A5
0.925 0.040 17 6707026 splice donor variant A/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs773770609
rs773770609
SLC13A5
1.000 17 6695784 stop gained G/A snv 1.6E-05 3.5E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs773770609
rs773770609
SLC13A5
1.000 17 6695784 stop gained G/A snv 1.6E-05 3.5E-05
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.700 0
dbSNP: rs863225447
rs863225447
SLC13A5 ; C17orf100 ; ALOX15P1
1.000 17 6693101 frameshift variant -/ACTTTCTCCTG delins
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.700 0
dbSNP: rs755378873
rs755378873
SLC13A5
0.851 0.120 17 6694197 missense variant C/A;T snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs755378873
rs755378873
SLC13A5
0.851 0.120 17 6694197 missense variant C/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs755378873
rs755378873
SLC13A5
0.851 0.120 17 6694197 missense variant C/A;T snv 4.0E-06
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 1.000 1 2014 2014
dbSNP: rs755378873
rs755378873
SLC13A5
0.851 0.120 17 6694197 missense variant C/A;T snv 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2014 2014
dbSNP: rs755378873
rs755378873
SLC13A5
0.851 0.120 17 6694197 missense variant C/A;T snv 4.0E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2014 2014