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: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.860 0.900 10 2008 2015
dbSNP: rs1295686
rs1295686
IL13 ; TH2LCRR
0.882 0.160 5 132660151 intron variant T/A;C snv 0.68
CUI: C0004096
Disease: Asthma
Asthma 		0.840 1.000 7 2010 2018
dbSNP: rs1701704
rs1701704
IKZF4 ; LOC105369781
0.851 0.200 12 56018703 intron variant T/G snv 0.25
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.830 1.000 4 2008 2013
dbSNP: rs121908928
rs121908928
COCH ; LOC100506071
1.000 0.120 14 30878834 missense variant G/A;T snv 8.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.810 1.000 14 1998 2014
dbSNP: rs121908930
rs121908930
COCH ; LOC100506071
0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.810 1.000 14 1998 2014
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.810 1.000 3 2012 2014
dbSNP: rs867186
rs867186
PROCR ; MMP24-AS1-EDEM2
0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.810 1.000 3 2013 2018
dbSNP: rs1520333
rs1520333
PKIA-AS1 ; LOC105375911
0.925 0.120 8 78488803 intron variant A/G snv 0.40
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.810 1.000 2 2011 2015
dbSNP: rs219780
rs219780
CLDN14 ; LOC105369301
0.925 0.120 21 36461009 synonymous variant C/A;T snv 4.0E-06; 0.16
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.810 1.000 2 2009 2015
dbSNP: rs2275606
rs2275606
ADGB ; LOC101928661
0.925 0.040 6 146597814 intron variant G/A snv 7.7E-02
CUI: C0023343
Disease: Leprosy
Leprosy 		0.810 1.000 2 2011 2016
dbSNP: rs2456973
rs2456973
IKZF4 ; LOC105369780 ; LOC105369781
0.925 0.040 12 56023144 intron variant A/C;G snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.810 1.000 2 2012 2015
dbSNP: rs1228590199
rs1228590199
PAX3 ; LOC107985991
0.925 0.040 2 222221372 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.800 1.000 20 1992 2014
dbSNP: rs1380858784
rs1380858784
PAX3 ; LOC107985991
1.000 0.040 2 222221369 missense variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.800 1.000 20 1992 2014
dbSNP: rs121908932
rs121908932
COCH ; LOC100506071
0.925 0.120 14 30889763 missense variant G/A;T snv
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.800 1.000 14 1998 2014
dbSNP: rs121908927
rs121908927
COCH ; LOC100506071
1.000 0.120 14 30877686 missense variant T/C;G snv 8.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.800 1.000 13 1998 2014
dbSNP: rs121908929
rs121908929
COCH ; LOC100506071
1.000 0.120 14 30878920 missense variant T/C snv
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.800 1.000 13 1998 2014
dbSNP: rs121908934
rs121908934
COCH ; LOC100506071
1.000 0.120 14 30889673 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.800 1.000 13 1998 2014
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0004096
Disease: Asthma
Asthma 		0.800 1.000 13 2009 2018
dbSNP: rs1554810378
rs1554810378
ENG ; LOC105379841
0.925 0.120 9 127825722 missense variant A/G snv
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.800 1.000 12 1994 2010
dbSNP: rs546099787
rs546099787
MMACHC ; CCDC163
1.000 0.160 1 45500412 missense variant A/G snv 1.2E-05
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.800 1.000 11 2006 2017
dbSNP: rs121908415
rs121908415
ACTN4 ; LOC107985291
0.925 0.080 19 38710286 missense variant A/G snv 7.0E-06
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 1.000 7 2000 2013
dbSNP: rs121908416
rs121908416
ACTN4 ; LOC107985291
0.925 0.080 19 38710299 missense variant C/T snv
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 1.000 7 2000 2013
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
0.925 0.080 19 38710307 missense variant T/C snv
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 1.000 7 2000 2013
dbSNP: rs121909511
rs121909511
CHRNE ; C17orf107
0.925 0.040 17 4900845 missense variant G/A snv
CUI: C4225413
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		0.800 1.000 7 1995 2016
dbSNP: rs397514653
rs397514653
ALDH1A3 ; LOC101927751
1.000 15 100914711 missense variant G/A;C snv 8.0E-06
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.800 1.000 7 2013 2014