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: 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: rs121913000
rs121913000
DES
1 1.000 0.160 2 219421394 missense variant G/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: rs58999456
rs58999456
DES
1 1.000 0.160 2 219418467 missense variant G/T snv 0.700 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: 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: 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: rs730880289
rs730880289
DES
1 1.000 0.160 2 219420158 splice region variant AG/- delins 0.700 1.000 1 1998 1998
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: 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: 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