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: rs6960920
rs6960920 		3 0.925 0.040 7 44376473 downstream gene variant G/C;T snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs7090530
rs7090530 		4 0.851 0.160 10 6068912 downstream gene variant C/A snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10876864
rs10876864
IKZF4
5 0.882 0.120 12 56007301 upstream gene variant G/A snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs16147
rs16147
NPY ; LOC107986777
18 0.695 0.400 7 24283791 upstream gene variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2014 2014
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 2015 2015
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.010 1.000 1 2019 2019
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 1.000 2 2013 2015
dbSNP: rs4353229
rs4353229
CASP7
6 0.807 0.160 10 113729830 3 prime UTR variant T/C snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs4946936
rs4946936
FOXO3
8 0.790 0.160 6 108682118 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs2273844
rs2273844
GZMB ; LOC107984667
3 0.925 0.040 14 24634208 5 prime UTR variant G/A snv 0.24 0.26 0.010 1.000 1 2015 2015
dbSNP: rs78645479
rs78645479
FOXD3 ; FOXD3-AS1
4 0.851 0.120 1 63322631 5 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2267641
rs2267641
DDR1
2 0.925 0.040 6 30897427 synonymous variant A/C snv 0.24 0.18 0.010 1.000 1 2010 2010
dbSNP: rs291700
rs291700
CDK5RAP1
3 0.925 0.040 20 33394043 synonymous variant T/C snv 0.64 0.62 0.010 1.000 1 2013 2013
dbSNP: rs35677492
rs35677492
CAT
2 0.925 0.040 11 34471409 synonymous variant G/A snv 5.0E-04 2.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs769217
rs769217
CAT
12 0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22 0.010 1.000 1 2015 2015
dbSNP: rs2096525
rs2096525
MIF ; MIF-AS1
6 0.827 0.280 22 23894632 non coding transcript exon variant T/C snv 0.20 0.20 0.010 1.000 1 2013 2013
dbSNP: rs2269577
rs2269577
XBP1 ; ZNRF3
4 0.882 0.120 22 28800769 non coding transcript exon variant G/C snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.060 0.833 6 2005 2018
dbSNP: rs1135216
rs1135216
PSMB9 ; TAP1
6 0.807 0.200 6 32847198 missense variant T/C snv 0.17 0.18 0.020 0.500 2 2014 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2020
dbSNP: rs3213758
rs3213758
RPGRIP1L
3 0.925 0.040 16 53605526 missense variant C/T snv 7.3E-02 4.7E-02 0.020 1.000 2 2013 2015