Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs8007903
KLC1
0.925 0.120 14 103671306 intron variant A/G snv 0.27 2
rs8702
KLC1
0.851 0.160 14 103686015 3 prime UTR variant C/G snv 0.61 5
rs777441702
GCNT2
0.925 0.080 6 10621360 missense variant G/A snv 1.2E-05 1.4E-05 2
rs143810759
LIG4
0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04 6
rs370803064
CRYAB
0.925 0.200 11 111908781 missense variant C/T snv 4.0E-06 7.0E-06 3
rs141638421
CRYAB
0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05 4
rs150516929
CRYAB
0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 8
rs534473091
CRYAB
0.882 0.040 11 111908925 missense variant G/A snv 2.0E-05 4.9E-05 3
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 12
rs387907339
CRYAB
0.882 0.280 11 111908967 missense variant C/A;G snv 4
rs139750142
CRYAB
0.925 0.200 11 111910446 missense variant G/A;T snv 9.5E-05; 4.0E-06 6.3E-05 2
rs387907338
HSPB2-C11orf52 ; HSPB2 ; CRYAB
0.827 0.200 11 111911559 missense variant G/A;T snv 5
rs375933774
CRYAB ; HSPB2-C11orf52 ; HSPB2
0.925 0.040 11 111911691 missense variant G/A snv 2.3E-05 3.5E-05 2
rs782809283
HSPB2 ; CRYAB ; HSPB2-C11orf52
1.000 0.040 11 111911693 missense variant C/T snv 1.8E-05 4.2E-05 1
rs781902168
HSPB2 ; CRYAB ; HSPB2-C11orf52
0.882 0.040 11 111911694 missense variant G/A;C snv 3.2E-05 3
rs375713569
SDS
0.925 0.040 12 113398748 missense variant G/A;C snv 3.6E-05; 1.2E-05 2
rs777547119
HGD
1.000 0.040 3 120675839 missense variant A/G snv 4.0E-06 1
rs778791846
SMO
0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05 4
rs142285818
RHO
0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 11
rs377423839
BFSP2
0.925 0.080 3 133400418 missense variant G/A snv 5.2E-05 1.4E-05 2
rs104893685
BFSP2-AS1 ; BFSP2
0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 3
rs930526408
BFSP2 ; BFSP2-AS1
0.925 0.040 3 133472412 missense variant G/A;T snv 2
rs1554781700
COL5A1
0.851 0.240 9 134701287 missense variant G/T snv 12
rs6596473
SLC23A1
0.807 0.120 5 139374887 intron variant G/C;T snv 7