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: 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: rs1411703397
rs1411703397
DES
1 1.000 0.160 2 219421359 missense variant A/C;T snv 4.0E-06 0.700 0
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: rs398122940
rs398122940
DES
1 1.000 0.160 2 219425661 splice acceptor variant A/G snv 0.700 0
dbSNP: rs58687088
rs58687088
DES
1 1.000 0.160 2 219421410 inframe deletion ACA/- delins 0.700 0
dbSNP: rs59308628
rs59308628
DES
1 1.000 0.160 2 219421425 missense variant T/C snv 0.700 0
dbSNP: rs60538473
rs60538473
DES
2 0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins 0.700 0
dbSNP: rs60794845
rs60794845
DES
1 1.000 0.160 2 219418599 missense variant C/A;T snv 0.700 0
dbSNP: rs748323823
rs748323823
DES
1 1.000 0.160 2 219425746 splice donor variant G/A;C snv 3.4E-05 0.700 0
dbSNP: rs886043000
rs886043000
DES
1 1.000 0.160 2 219418835 stop gained A/T snv 0.700 0
dbSNP: rs886043080
rs886043080
DES
1 1.000 0.160 2 219421529 frameshift variant T/- del 0.700 0
dbSNP: rs903985237
rs903985237
DES
1 1.000 0.160 2 219418482 missense variant C/T snv 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: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.030 1.000 3 2002 2011
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: 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: 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: 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: 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: rs61130669
rs61130669
DES
2 0.925 0.160 2 219421511 missense variant G/T snv 0.800 1.000 1 2014 2014
dbSNP: rs61726467
rs61726467
DES
3 0.882 0.160 2 219421553 stop gained G/A;T snv 0.700 1.000 6 2007 2016