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: rs3831317
rs3831317
CHIT1
2 0.925 0.080 1 203217822 stop gained -/AGACCATGGCCCCGCCCAGTCCCT delins 0.010 1.000 1 2016 2016
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.020 0.500 2 2014 2016
dbSNP: rs2069825
rs2069825
IL6 ; STEAP1B ; IL6-AS1
2 1.000 0.040 7 22725718 non coding transcript exon variant -/CC delins 6.7E-05 0.010 1.000 1 2011 2011
dbSNP: rs17486278
rs17486278
CHRNA5
9 0.827 0.120 15 78575140 intron variant A/C snv 0.32 0.700 1.000 3 2015 2017
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs11852372
rs11852372
HYKK
3 1.000 0.040 15 78509052 intron variant A/C snv 0.27 0.700 1.000 1 2015 2015
dbSNP: rs11938704
rs11938704
LOC105377462
1 1.000 0.040 4 144522218 intron variant A/C snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs12979270
rs12979270
CYP2B6
1 1.000 0.040 19 41018226 3 prime UTR variant A/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs148133787
rs148133787 		2 1.000 0.040 18 27647495 intergenic variant A/C snv 2.8E-03 0.700 1.000 1 2015 2015
dbSNP: rs181020201
rs181020201
C1orf185
2 1.000 0.040 1 51134390 intron variant A/C snv 1.1E-04 0.700 1.000 1 2015 2015
dbSNP: rs1891385
rs1891385
IL33
2 0.925 0.120 9 6219845 intron variant A/C snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs1912188
rs1912188
SPAG16
2 1.000 0.040 2 214354143 intron variant A/C snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs2128739
rs2128739 		2 0.925 0.080 11 103802549 intron variant A/C snv 0.68 0.700 1.000 1 2019 2019
dbSNP: rs2234694
rs2234694
SOD1
3 0.882 0.240 21 31666552 intron variant A/C snv 3.6E-02 3.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs2293947
rs2293947
EEFSEC
2 1.000 0.040 3 128378653 intron variant A/C snv 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs2579762
rs2579762
LRMDA
1 1.000 0.040 10 76559121 3 prime UTR variant A/C snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs3785859
rs3785859
BCAS3
1 1.000 0.040 17 61302377 intron variant A/C snv 0.46 0.700 1.000 1 2015 2015
dbSNP: rs3995090
rs3995090
HTR4 ; LOC107986462
5 1.000 0.040 5 148466252 intron variant A/C snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs4746139
rs4746139
SYNPO2L
2 1.000 0.040 10 73647891 synonymous variant A/C snv 0.16 0.14 0.700 1.000 1 2019 2019
dbSNP: rs56184183
rs56184183
MMP12
1 1.000 0.040 11 102863081 3 prime UTR variant A/C snv 1.1E-03 1.0E-03 0.010 1.000 1 2012 2012
dbSNP: rs57942103
rs57942103
ZFPM2
3 1.000 0.040 8 105501233 intron variant A/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs61781370
rs61781370 		2 1.000 0.040 1 39579628 upstream gene variant A/C snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs6481619
rs6481619
SVIL
1 1.000 0.040 10 29694025 intron variant A/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs6677089
rs6677089
CFH
2 1.000 0.040 1 196715183 intron variant A/C snv 0.46 0.700 1.000 1 2015 2015
dbSNP: rs7042889
rs7042889 		2 0.925 0.080 9 129033082 upstream gene variant A/C snv 0.15 0.700 1.000 1 2017 2017