Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv 14
rs1057515576
ARL6
0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 9
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins 7
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 7
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 6
rs1057518903
MEN1
0.882 0.160 11 64807890 splice region variant C/- delins 6
rs1559279177
HJV
0.851 0.160 1 146018661 frameshift variant G/- del 5
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 4
rs74551128
CFTR-AS1 ; CFTR
0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 4
rs1553769428
HJV
0.925 0.120 1 146018352 stop gained C/A snv 4
rs587783669
KCNJ11
0.882 0.160 11 17387594 stop gained G/C;T snv 4
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 3
rs71785313
APOL1
0.882 0.120 22 36265996 inframe deletion TTATAA/- delins 3
rs1135401784
CP
0.925 0.120 3 149178537 missense variant A/G snv 3
rs386134141
CP
0.925 0.120 3 149177980 splice acceptor variant C/A;T snv 3
rs137853247
HNF1A ; HNF1A-AS1
0.851 0.200 12 120978860 missense variant G/A;C snv 7.7E-04; 4.0E-06 3
rs80356610
KCNJ11
0.827 0.080 11 17387968 missense variant A/G snv 3
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv 3
rs80356625
KCNJ11
0.827 0.280 11 17387491 missense variant G/A snv 3