Source: BEFREE

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 6 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 4 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 3 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 1 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 1 1998 2014
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 1 2011 2015
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 1 2012 2014
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 1 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 1 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 1 2012 2015
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 1 2013 2018
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 12 2009 2018
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.740 1.000 4 1992 2013
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		0.730 1.000 3 1992 2014
dbSNP: rs121965029
rs121965029
IDUA ; SLC26A1
0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.730 1.000 3 1993 2019
dbSNP: rs1044845711
rs1044845711
ADAR ; CHRNB2
1.000 0.080 1 154585024 missense variant G/A snv 7.0E-06
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.720 1.000 2 2005 2013
dbSNP: rs121908390
rs121908390
CYLD ; LOC105371251
0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		0.720 1.000 2 2009 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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.720 0.667 2 2005 2011
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
0.882 0.080 1 147760632 intron variant T/A;C snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.710 1.000 1 2011 2018
dbSNP: rs121965029
rs121965029
IDUA ; SLC26A1
0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.710 1.000 1 1996 1996
dbSNP: rs219778
rs219778
CLDN14 ; LOC105369301
0.925 0.120 21 36462343 intron variant A/G snv 0.31
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.710 1.000 1 2009 2015
dbSNP: rs28938175
rs28938175
COCH ; LOC100506071
0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.710 1.000 1 2005 2005
dbSNP: rs62026376
rs62026376
CLEC16A ; LOC105371081
0.925 0.120 16 11134855 intron variant C/T snv 0.18
CUI: C0004096
Disease: Asthma
Asthma 		0.710 1.000 1 2014 2014
dbSNP: rs62026376
rs62026376
CLEC16A ; LOC105371081
0.925 0.120 16 11134855 intron variant C/T snv 0.18
CUI: C0018621
Disease: Hay fever
Hay fever 		0.710 1.000 1 2014 2014
dbSNP: rs6871536
rs6871536
RAD50 ; TH2LCRR
0.827 0.160 5 132634182 intron variant T/C snv 0.24
CUI: C0004096
Disease: Asthma
Asthma 		0.710 1.000 1 2010 2016