Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.030 1.000 3 2002 2011
dbSNP: rs1057523274
rs1057523274
DES
1 1.000 0.160 2 219418463 start lost A/G snv 0.700 0
dbSNP: rs1060503165
rs1060503165
DES
1 1.000 0.160 2 219418856 stop gained C/T snv 0.700 0
dbSNP: rs121913000
rs121913000
DES
1 1.000 0.160 2 219421394 missense variant G/C snv 0.800 1.000 21 1998 2017
dbSNP: rs121913001
rs121913001
DES
1 1.000 0.160 2 219421494 missense variant A/G;T snv 1.2E-05 0.800 1.000 20 1998 2017
dbSNP: rs121913002
rs121913002
DES
7 0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 0.700 1.000 21 1998 2017
dbSNP: rs121913003
rs121913003
DES
6 0.882 0.200 2 219421532 missense variant C/T snv 0.800 1.000 27 1998 2017
dbSNP: rs121913004
rs121913004
DES
1 1.000 0.160 2 219421482 missense variant A/C snv 0.810 1.000 20 1998 2017
dbSNP: rs121913005
rs121913005
DES
1 1.000 0.160 2 219425699 missense variant C/A;T snv 4.5E-06 0.800 1.000 26 1998 2017
dbSNP: rs1411703397
rs1411703397
DES
1 1.000 0.160 2 219421359 missense variant A/C;T snv 4.0E-06 0.700 0
dbSNP: rs150974575
rs150974575
DES
3 1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 0.700 1.000 9 2000 2013
dbSNP: rs1553603239
rs1553603239
DES
1 1.000 0.160 2 219418792 inframe deletion GCAGGAGCT/- delins 0.700 0
dbSNP: rs1553603566
rs1553603566
DES
1 1.000 0.160 2 219421467 missense variant A/G snv 0.700 0
dbSNP: rs1553603732
rs1553603732
DES
10 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
dbSNP: rs1559352440
rs1559352440
DES
1 1.000 0.160 2 219418976 stop gained C/T snv 0.700 0
dbSNP: rs267607482
rs267607482
DES
1 1.000 0.160 2 219421340 missense variant A/G snv 0.810 1.000 22 1998 2017
dbSNP: rs267607483
rs267607483
DES
2 1.000 0.160 2 219420349 splice region variant A/G;T snv 0.700 1.000 7 2000 2013
dbSNP: rs267607485
rs267607485
DES
2 0.925 0.160 2 219425720 missense variant A/C snv 0.710 1.000 22 1998 2017
dbSNP: rs267607486
rs267607486
DES
3 1.000 0.160 2 219420346 missense variant G/A;C snv 0.710 1.000 21 1998 2017
dbSNP: rs267607488
rs267607488
DES
1 1.000 0.160 2 219425732 missense variant C/T snv 0.700 1.000 20 1998 2017
dbSNP: rs267607490
rs267607490
DES
6 0.925 0.160 2 219425734 missense variant C/T snv 0.810 1.000 30 1998 2017
dbSNP: rs267607491
rs267607491
DES
1 1.000 0.160 2 219425956 missense variant G/T snv 0.700 1.000 20 1998 2017
dbSNP: rs267607499
rs267607499
DES
4 0.851 0.160 2 219418809 missense variant A/G;T snv 0.800 1.000 22 1998 2017
dbSNP: rs397516698
rs397516698
DES
1 1.000 0.160 2 219420347 splice donor variant G/A;C;T snv 0.700 1.000 3 2000 2013
dbSNP: rs398122940
rs398122940
DES
1 1.000 0.160 2 219425661 splice acceptor variant A/G snv 0.700 0