Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 10
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 8
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv 4
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 3
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 2
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv 2
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 2
rs60538473
DES
0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins 2
rs62636495
DES
0.925 0.200 2 219418500 missense variant C/A;T snv 2
rs1057523274
DES
1.000 0.160 2 219418463 start lost A/G snv 1
rs1060503165
DES
1.000 0.160 2 219418856 stop gained C/T snv 1
rs121913000
DES
1.000 0.160 2 219421394 missense variant G/C snv 1
rs121913001
DES
1.000 0.160 2 219421494 missense variant A/G;T snv 1.2E-05 1
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv 1
rs121913004
DES
1.000 0.160 2 219421482 missense variant A/C snv 1
rs121913005
DES
1.000 0.160 2 219425699 missense variant C/A;T snv 4.5E-06 1
rs1411703397
DES
1.000 0.160 2 219421359 missense variant A/C;T snv 4.0E-06 1
rs1553603239
DES
1.000 0.160 2 219418792 inframe deletion GCAGGAGCT/- delins 1
rs1553603566
DES
1.000 0.160 2 219421467 missense variant A/G snv 1
rs1559352440
DES
1.000 0.160 2 219418976 stop gained C/T snv 1
rs267607482
DES
1.000 0.160 2 219421340 missense variant A/G snv 1
rs267607485
DES
0.925 0.160 2 219425720 missense variant A/C snv 1
rs267607499
DES
0.851 0.160 2 219418809 missense variant A/G;T snv 1
rs397516698
DES
1.000 0.160 2 219420347 splice donor variant G/A;C;T snv 1
rs398122940
DES
1.000 0.160 2 219425661 splice acceptor variant A/G snv 1