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: 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: 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: 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