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: rs5770917
rs5770917
CHKB ; CPT1B ; CHKB-CPT1B
0.925 0.080 22 50578924 intron variant T/C snv 6.0E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.840 0.750 4 2008 2014
dbSNP: rs587777343
rs587777343
STUB1 ; JMJD8
0.925 0.120 16 682232 missense variant C/T snv
CUI: C4014261
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 		0.810 1.000 6 2013 2018
dbSNP: rs199472821
rs199472821
KCNQ1 ; KCNQ1-AS1
1.000 0.120 11 2847848 missense variant G/A snv 1.1E-05 1.4E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 20 1996 2015
dbSNP: rs587777345
rs587777345
STUB1 ; JMJD8
1.000 0.080 16 682214 missense variant T/C snv 7.0E-06
CUI: C4014261
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 		0.800 1.000 5 2013 2014
dbSNP: rs147445322
rs147445322
KCNQ1 ; KCNQ1-AS1
0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 4 2011 2017
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: rs372091
rs372091
HBE1 ; HBG2 ; OR51B5
1.000 0.040 11 5496926 intron variant A/G;T snv
CUI: C0024530
Disease: Malaria
Malaria 		0.800 1.000 1 2012 2012
dbSNP: rs387906639
rs387906639
HARS1 ; DND1
0.925 0.120 5 140674776 missense variant T/G snv 2.0E-05 9.1E-05
CUI: C3281066
Disease: USHER SYNDROME, TYPE IIIB
USHER SYNDROME, TYPE IIIB 		0.800 1.000 1 2012 2012
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: rs199472819
rs199472819
KCNQ1 ; KCNQ1-AS1
1.000 0.120 11 2847827 missense variant T/A snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 20 1996 2015
dbSNP: rs199473484
rs199473484
KCNQ1 ; KCNQ1-AS1
1.000 0.120 11 2847875 missense variant G/A snv 1.6E-05 4.9E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 20 1996 2015
dbSNP: rs34516117
rs34516117
KCNQ1 ; KCNQ1-AS1
1.000 0.120 11 2847771 missense variant C/T snv 1.6E-04 6.1E-04
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 20 1996 2015
dbSNP: rs397508104
rs397508104
KCNQ1 ; KCNQ1-AS1
0.925 0.120 11 2847859 frameshift variant C/-;CC delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 6 1999 2014
dbSNP: rs387906639
rs387906639
HARS1 ; DND1
0.925 0.120 5 140674776 missense variant T/G snv 2.0E-05 9.1E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 4 2012 2016
dbSNP: rs387906639
rs387906639
HARS1 ; DND1
0.925 0.120 5 140674776 missense variant T/G snv 2.0E-05 9.1E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 4 2012 2016
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: rs1391619
rs1391619
HBE1 ; HBG2 ; OR51B5
11 5434699 intron variant G/A;C snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 2 2008 2011
dbSNP: rs10768980
rs10768980
HBE1 ; HBG2 ; OR51B5
11 5470803 intron variant C/G snv 0.55
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs10876528
rs10876528
HOXC4 ; HOXC5 ; HOXC6
12 54027692 intron variant C/A;G snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs10876528
rs10876528
HOXC4 ; HOXC5 ; HOXC6
12 54027692 intron variant C/A;G snv
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs11037417
rs11037417
HBE1 ; HBG2 ; OR51B5
11 5427313 intron variant G/A snv 0.24
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs11037444
rs11037444
HBE1 ; HBG2 ; OR51B5 ; OR51I1
11 5440855 synonymous variant G/A snv 0.21 0.19
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs11037866
rs11037866
HBE1 ; HBG2 ; OR51B5
11 5504641 intron variant C/T snv 0.26
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs12319419
rs12319419
HOXC4 ; HOXC5 ; HOXC6
12 54026992 intron variant G/C snv 0.30
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2018 2018