Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs751235320
SERPINA1
0.882 0.160 14 94382591 splice donor variant C/A snv 4.0E-06 1.4E-05 3
rs756773408
SERPINA1
0.882 0.160 14 94382592 missense variant C/A snv 2.0E-05 2.8E-05 3
rs11558261
SERPINA1
0.882 0.160 14 94382823 missense variant C/T snv 9.1E-05 3.5E-05 3
rs28931569
SERPINA1
0.882 0.160 14 94383044 missense variant A/G snv 4.4E-05 3.5E-05 3
rs374778785
RORA-AS1 ; RORA
0.790 0.240 15 60627500 intron variant T/A snv 4.2E-05 8
rs764325655
SERPINA1
0.882 0.160 14 94378548 frameshift variant G/-;GG delins 4.2E-05 3
rs775982338
SERPINA1
0.882 0.160 14 94383009 inframe deletion AGA/- delins 1.7E-04 3
rs121912714
SERPINA1
0.882 0.160 14 94380949 missense variant T/A snv 4.7E-04 3.3E-04 4
rs121912712
SERPINA1
1.000 0.040 14 94378547 missense variant C/T snv 2.4E-05; 3.9E-04; 4.0E-06 3.6E-04 1
rs28931570
SERPINA1
0.882 0.160 14 94383051 missense variant G/A snv 1.1E-03 1.5E-03 3
rs61754411
PTPRO
1.000 0.040 12 15503912 missense variant C/G;T snv 1.9E-02 1.9E-02 1
rs7698250 1.000 0.040 4 24514008 downstream gene variant C/T snv 2.2E-02 2
rs17580
SERPINA1
0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 14
rs10947233
PPT2-EGFL8 ; PPT2
0.925 0.160 6 32156647 intron variant G/C;T snv 3.4E-02 4
rs707974
GPANK1 ; BAG6 ; C6orf47
1.000 0.040 6 31661722 3 prime UTR variant A/G snv 6.7E-02 1
rs10411619
LOC105372279
1.000 0.040 19 12641611 upstream gene variant T/C snv 7.0E-02 2
rs7955866
FGF23
0.807 0.240 12 4370383 missense variant G/A snv 0.13 0.11 6
rs2277698
TIMP2 ; CEP295NL
0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11 6
rs35949016
FUT8
1.000 0.040 14 65669445 missense variant C/A snv 0.17 0.13 1
rs641525 1.000 0.040 8 2882980 intergenic variant T/G snv 0.17 2
rs10887199
SFTPD
1.000 0.040 10 79943078 intron variant T/C snv 0.18 1
rs7905537 1.000 0.040 10 33942347 intergenic variant A/C snv 0.23 2
rs7221059 1.000 0.040 17 76992362 intergenic variant C/A snv 0.24 2
rs1051730
CHRNA3
0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs8034191
HYKK
0.695 0.440 15 78513681 intron variant T/C snv 0.27 24