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: rs2629751
rs2629751
GLT8D2
2 0.925 0.120 12 104028030 intron variant A/G snv 0.36 0.800 1.000 1 2012 2012
dbSNP: rs2679757
rs2679757
AZIN1
2 0.925 0.080 8 102858590 intron variant A/G snv 0.37 0.010 1.000 1 2013 2013
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: rs3077
rs3077
HLA-DPA1
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.010 < 0.001 1 2011 2011
dbSNP: rs3106796
rs3106796
COL3A1 ; LOC105373791
3 0.882 0.160 2 188985047 non coding transcript exon variant A/G snv 0.35 0.010 1.000 1 2008 2008
dbSNP: rs3135363
rs3135363 		8 0.776 0.360 6 32421871 intergenic variant A/G snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs4711998
rs4711998
IL17A
16 0.708 0.360 6 52185555 upstream gene variant A/G snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs5744174
rs5744174
TLR5
13 0.742 0.360 1 223111186 missense variant A/G snv 0.39 0.34 0.010 1.000 1 2017 2017
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: rs6834314
rs6834314 		10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2005 2005
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2012 2012
dbSNP: rs1419129874
rs1419129874
FARSB
5 0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1466642025
rs1466642025
FARSB
5 0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2008 2014
dbSNP: rs2298839
rs2298839
AFP
2 0.925 0.080 4 73445127 splice region variant A/G;T snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs57749775
rs57749775
KRT8
6 0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06 0.010 1.000 1 2003 2003
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: rs8021276
rs8021276 		2 0.925 0.080 14 92110162 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
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: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2003 2003
dbSNP: rs2071746
rs2071746
HMOX1
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 1.000 3 2012 2020
dbSNP: rs11554495
rs11554495
KRT8
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.020 1.000 2 2003 2006
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