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: rs267607490
rs267607490
DES
6 0.925 0.160 2 219425734 missense variant C/T snv 0.810 1.000 30 1998 2017
dbSNP: rs62636495
rs62636495
DES
4 0.925 0.200 2 219418500 missense variant C/A;T snv 0.800 1.000 28 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: rs57496341
rs57496341
DES
1 1.000 0.160 2 219420943 missense variant T/C;G snv 0.800 1.000 23 1998 2017
dbSNP: rs62635763
rs62635763
DES
1 1.000 0.160 2 219423787 missense variant C/A;T snv 0.800 1.000 23 1998 2017
dbSNP: rs267607482
rs267607482
DES
1 1.000 0.160 2 219421340 missense variant A/G snv 0.810 1.000 22 1998 2017
dbSNP: rs267607485
rs267607485
DES
2 0.925 0.160 2 219425720 missense variant A/C snv 0.710 1.000 22 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: rs121913000
rs121913000
DES
1 1.000 0.160 2 219421394 missense variant G/C snv 0.800 1.000 21 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: rs57639980
rs57639980
DES
2 1.000 0.160 2 219421350 missense variant T/C snv 0.800 1.000 21 1998 2017
dbSNP: rs57955682
rs57955682
DES
1 1.000 0.160 2 219421470 missense variant T/C snv 0.800 1.000 21 1998 2017
dbSNP: rs58898021
rs58898021
DES
3 0.925 0.160 2 219421385 missense variant G/C snv 0.700 1.000 21 1998 2017
dbSNP: rs58999456
rs58999456
DES
1 1.000 0.160 2 219418467 missense variant G/T snv 0.700 1.000 21 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: rs267607488
rs267607488
DES
1 1.000 0.160 2 219425732 missense variant C/T snv 0.700 1.000 20 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: rs57694264
rs57694264
DES
1 1.000 0.160 2 219421517 missense variant G/A snv 0.700 1.000 20 1998 2017
dbSNP: rs60798368
rs60798368
DES
2 0.925 0.160 2 219418508 missense variant C/T snv 7.0E-06 0.700 1.000 20 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: rs61726467
rs61726467
DES
3 0.882 0.160 2 219421553 stop gained G/A;T snv 0.700 1.000 6 2007 2016
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.030 1.000 3 2002 2011
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: rs61130669
rs61130669
DES
2 0.925 0.160 2 219421511 missense variant G/T snv 0.800 1.000 1 2014 2014
dbSNP: rs730880289
rs730880289
DES
1 1.000 0.160 2 219420158 splice region variant AG/- delins 0.700 1.000 1 1998 1998