Source: BEFREE ×
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: rs104886003
rs104886003
PIK3CA
43 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2018 2020
dbSNP: rs4846048
rs4846048
MTHFR ; C1orf167
10 0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67 0.010 1.000 1 2020 2020
dbSNP: rs55763075
rs55763075
MTHFR ; C1orf167
6 0.827 0.120 1 11790377 3 prime UTR variant C/T snv 2.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.786 14 2004 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.833 12 2005 2019
dbSNP: rs187084
rs187084
TLR9
35 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.050 1.000 5 2012 2019
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 1.000 5 2011 2019
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
110 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.030 1.000 3 2019 2019
dbSNP: rs4986790
rs4986790
TLR4
221 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 0.667 3 2009 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2005 2019
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.020 0.500 2 2017 2019
dbSNP: rs16944
rs16944
IL1B
91 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2015 2019
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.020 1.000 2 2019 2019
dbSNP: rs10426502
rs10426502
MYDGF ; TNFAIP8L1
3 0.882 0.080 19 4651257 intron variant G/A snv 6.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1058808
rs1058808
ERBB2
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2019 2019
dbSNP: rs1060555
rs1060555
MYDGF ; TNFAIP8L1
3 0.882 0.080 19 4652810 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1143627
rs1143627
IL1B
45 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs1143630
rs1143630
IL1B
5 0.827 0.160 2 112834078 intron variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs11543848
rs11543848
EGFR
7 0.790 0.240 7 55161562 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11568785
rs11568785
TGFBR1
5 0.882 0.080 9 99143552 intron variant A/G;T snv 7.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs11655237
rs11655237
LINC00511 ; LINC00673
17 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs11674595
rs11674595
IL1R2
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1195571
rs1195571 		3 0.882 0.080 12 130739483 intergenic variant T/C snv 0.97 0.010 < 0.001 1 2019 2019
dbSNP: rs12646659
rs12646659
VEGFC
3 0.882 0.080 4 176764117 intron variant C/G snv 5.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2019 2019