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: rs58999456
rs58999456
DES
1 1.000 0.160 2 219418467 missense variant G/T snv 0.700 1.000 21 1998 2017
dbSNP: rs903985237
rs903985237
DES
1 1.000 0.160 2 219418482 missense variant C/T snv 0.700 0
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: 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: rs60794845
rs60794845
DES
1 1.000 0.160 2 219418599 missense variant C/A;T snv 0.700 0
dbSNP: rs1553603239
rs1553603239
DES
1 1.000 0.160 2 219418792 inframe deletion GCAGGAGCT/- delins 0.700 0
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: rs886043000
rs886043000
DES
1 1.000 0.160 2 219418835 stop gained A/T snv 0.700 0
dbSNP: rs1060503165
rs1060503165
DES
1 1.000 0.160 2 219418856 stop gained C/T snv 0.700 0
dbSNP: rs1559352440
rs1559352440
DES
1 1.000 0.160 2 219418976 stop gained C/T snv 0.700 0
dbSNP: rs60538473
rs60538473
DES
2 0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins 0.700 0
dbSNP: rs730880289
rs730880289
DES
1 1.000 0.160 2 219420158 splice region variant AG/- delins 0.700 1.000 1 1998 1998
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: 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: 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: rs59962885
rs59962885
DES
11 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.800 1.000 1 2014 2014
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: rs267607482
rs267607482
DES
1 1.000 0.160 2 219421340 missense variant A/G snv 0.810 1.000 22 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: rs1411703397
rs1411703397
DES
1 1.000 0.160 2 219421359 missense variant A/C;T snv 4.0E-06 0.700 0
dbSNP: rs57965306
rs57965306
DES
6 0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 0.820 1.000 8 2005 2019
dbSNP: rs61368398
rs61368398
DES
2 1.000 0.160 2 219421380 missense variant G/A;C;T snv 3.2E-05 0.800 1.000 2 2011 2014
dbSNP: rs58898021
rs58898021
DES
3 0.925 0.160 2 219421385 missense variant G/C snv 0.700 1.000 21 1998 2017