Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs954917585
FGFR2
10 121479973 missense variant G/A snv 8.0E-06 1.4E-05 1
rs9514828
TNFSF13B
0.752 0.440 13 108269025 intron variant C/T snv 0.35 12
rs868564661
FGFR2
10 121487415 missense variant G/A snv 1
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs80338707
LOC100130283 ; PMM2
0.925 0.080 16 8847775 missense variant G/A;C snv 6.8E-05; 4.0E-06 4
rs781314841
SORBS1
10 95341566 missense variant C/T snv 4.4E-05 2.8E-05 1
rs779770523
SORBS1
10 95432543 missense variant C/G;T snv 1.2E-05; 4.0E-06 1
rs778438430
SORBS1
10 95381747 missense variant C/T snv 1.6E-05 2.8E-05 1
rs762623
CDKN1A ; DINOL
1.000 0.160 6 36677689 non coding transcript exon variant G/A snv 0.12 2
rs75961395
CFTR
0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 10
rs758564400
REN
0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06 5
rs757533393
POFUT1
1.000 20 32216664 missense variant C/G;T snv 1.2E-05 2
rs751703423
AIMP2 ; EIF2AK1
7 6023410 missense variant G/A;C snv 1
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 88
rs7314777
LOC105369818
12 68256855 upstream gene variant T/C snv 0.19 1
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 14
rs7254880
ZNF699
0.882 0.160 19 9298599 intron variant C/G snv 0.16 4
rs7248668 0.925 0.080 19 39253181 upstream gene variant G/A snv 0.16 3
rs7096206
MBL2
0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 17
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs698
ADH1C ; ADH1B
0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 20
rs6897932
IL7R
0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 25
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs6505162
NSRP1 ; MIR3184 ; MIR423
0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 25
rs641738
LOC112268246 ; TMC4 ; MBOAT7
0.689 0.320 19 54173068 missense variant T/A;C;G snv 22