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: rs11086998
rs11086998
CD40
1 1.000 0.120 20 46128885 missense variant C/G;T snv 2.2E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs1208732776
rs1208732776
THPO ; CHRD
1 1.000 0.120 3 184378252 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2292318
rs2292318
SLC12A4
5 0.925 0.120 16 67951803 intron variant C/A;T snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs4661012
rs4661012
PEAR1
1 1.000 0.120 1 156915699 3 prime UTR variant T/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs5369
rs5369
EDN1
1 1.000 0.120 6 12294025 synonymous variant A/G snv 0.90 0.88 0.010 1.000 1 2014 2014
dbSNP: rs580253
rs580253
CASP1
1 1.000 0.120 11 105029761 synonymous variant G/A snv 0.17 0.15 0.010 1.000 1 2017 2017
dbSNP: rs6141803
rs6141803 		2 1.000 0.120 20 32752550 TF binding site variant T/C snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs676457
rs676457
ABO
3 1.000 0.120 9 133270797 intron variant T/A snv 0.010 1.000 1 2015 2015
dbSNP: rs9508835
rs9508835
ALOX5AP
1 1.000 0.120 13 30760561 intron variant C/A snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs12766939
rs12766939
CUBN
2 0.925 0.160 10 17031136 intron variant A/G snv 0.23 0.010 1.000 1 2020 2020
dbSNP: rs174556
rs174556
FADS1 ; FADS2
7 0.925 0.160 11 61813163 intron variant C/T snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1801222
rs1801222
CUBN
5 0.925 0.160 10 17114152 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2020 2020
dbSNP: rs1994016
rs1994016
ADAMTS7
7 0.851 0.160 15 78787892 intron variant C/T snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs2075252
rs2075252
LRP2
5 0.925 0.160 2 169154475 stop gained T/A;C snv 0.76 0.010 < 0.001 1 2020 2020
dbSNP: rs2235312
rs2235312
APLN
3 0.882 0.160 X 129653118 intron variant A/G snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2762939
rs2762939
CYP24A1
3 0.925 0.160 20 54164712 intron variant G/C;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs3087459
rs3087459
EDN1
2 0.925 0.160 6 12289406 upstream gene variant A/C snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs3092920
rs3092920 		2 0.925 0.160 X 136661832 downstream gene variant G/T snv 0.23 0.010 < 0.001 1 2019 2019
dbSNP: rs3092952
rs3092952 		3 0.925 0.160 X 136644791 upstream gene variant A/G snv 0.29 0.010 < 0.001 1 2019 2019
dbSNP: rs315951
rs315951
IL1RN
2 0.925 0.160 2 113133009 3 prime UTR variant C/G snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs3737224
rs3737224
PEAR1
3 0.882 0.160 1 156909788 synonymous variant C/T snv 0.14 0.13 0.010 1.000 1 2018 2018
dbSNP: rs3761581
rs3761581
APLN
5 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs3784929
rs3784929
KARS1
2 0.925 0.160 16 75643129 intron variant A/G snv 0.30 0.010 < 0.001 1 2016 2016
dbSNP: rs41273215
rs41273215
PEAR1
3 0.882 0.160 1 156912167 intron variant C/T snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs4970834
rs4970834
CELSR2
8 0.925 0.160 1 109272258 intron variant C/T snv 0.17 0.21 0.010 1.000 1 2015 2015