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: rs17580
rs17580
SERPINA1
14 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.020 1.000 2 2019 2019
dbSNP: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 1.000 2 2019 2020
dbSNP: rs10433937
rs10433937
HSD17B13
4 0.882 0.080 4 87308948 intron variant T/A;C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1059122
rs1059122
FAM13A ; FAM13A-AS1
3 0.882 0.160 4 88726273 3 prime UTR variant T/A snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2019 2019
dbSNP: rs12252
rs12252
IFITM3
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2019 2019
dbSNP: rs13347
rs13347
CD44
12 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1682111
rs1682111
ACYP2
13 0.742 0.240 2 54200842 intron variant A/T snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2019 2019
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2019 2019
dbSNP: rs2274567
rs2274567
CR1
10 0.776 0.400 1 207580276 missense variant A/G snv 0.25 0.21 0.010 1.000 1 2019 2019
dbSNP: rs3017895
rs3017895
FAM13A ; FAM13A-AS1
1 1.000 0.080 4 88728340 3 prime UTR variant A/G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs3811381
rs3811381
CR1
11 0.763 0.240 1 207616743 missense variant C/A;G snv 8.0E-06; 0.24 0.010 1.000 1 2019 2019
dbSNP: rs4646437
rs4646437
CYP3A4
8 0.827 0.200 7 99767460 intron variant G/A snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs510432
rs510432
ATG5
11 0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs548234
rs548234
ATG5
11 0.763 0.360 6 106120159 intron variant C/T snv 0.76 0.010 1.000 1 2019 2019
dbSNP: rs629849
rs629849
IGF2R
9 0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91 0.010 < 0.001 1 2019 2019
dbSNP: rs642588
rs642588
IGF2R
2 0.925 0.120 6 159990235 intron variant A/G snv 0.83 0.010 < 0.001 1 2019 2019
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs675520
rs675520
LOC102723649 ; LOC105378018
2 0.925 0.080 6 137672095 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6834314
rs6834314 		10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs843645
rs843645
ACYP2
5 0.827 0.120 2 54247527 intron variant T/A;G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs843720
rs843720
ACYP2 ; LOC105374610
10 0.752 0.280 2 54283523 intron variant T/G snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs10146249
rs10146249
ATXN3
1 1.000 0.080 14 92074996 intron variant C/A snv 0.29 0.010 1.000 1 2018 2018