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: rs2285053
rs2285053
MMP2
15 0.752 0.320 16 55478465 intron variant C/T snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs3748067
rs3748067
IL17A
21 0.672 0.320 6 52190541 3 prime UTR variant C/T snv 6.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs3748076
rs3748076
PHACTR2
1 1.000 0.040 6 143757963 intron variant G/A snv 0.56 0.010 1.000 1 2015 2015
dbSNP: rs522616
rs522616
MMP3
10 0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs8193036
rs8193036
IL17A
21 0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs2067051
rs2067051
MRPL23 ; H19 ; MIR675
3 0.882 0.120 11 1996938 non coding transcript exon variant C/A;T snv 7.0E-06; 0.41 0.010 1.000 1 2016 2016
dbSNP: rs2290846
rs2290846
LRBA
3 1.000 0.040 4 150277928 missense variant G/A snv 0.20 0.18 0.010 1.000 1 2017 2017
dbSNP: rs1667614
rs1667614
TET3 ; FNBP1P1
1 1.000 0.040 2 74121852 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2274554
rs2274554
RBM26
1 1.000 0.040 13 79366394 intron variant G/A snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs2540438
rs2540438 		1 1.000 0.040 2 201485833 downstream gene variant C/A snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs16966671
rs16966671
CYBA ; MVD
1 1.000 0.040 16 88651867 upstream gene variant C/G snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs7195830
rs7195830
CYBA
6 0.851 0.080 16 88643304 3 prime UTR variant A/G snv 0.62 0.69 0.010 1.000 1 2019 2019