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: rs11456119
rs11456119
DYNC1I1
2 0.925 0.040 7 96089185 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2019 2019
dbSNP: rs4144502
rs4144502
CRADD
2 0.925 0.040 12 93787552 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs13301537
rs13301537
ASPN ; CENPP
2 0.925 0.040 9 92466765 intron variant A/G snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs17887218
rs17887218
TGFBR3
2 0.925 0.040 1 91714361 intron variant C/T snv 4.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs11105466
rs11105466
LOC105369890
2 0.925 0.040 12 89933142 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs78571182
rs78571182
ANKRD6
1 1.000 0.040 6 89517490 intron variant T/G snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs11997261
rs11997261 		2 0.925 0.040 8 8666851 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2015 2015
dbSNP: rs4778889
rs4778889
IL16
24 0.683 0.480 15 81296654 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs4072111
rs4072111
IL16
16 0.716 0.400 15 81285798 missense variant C/T snv 0.17 0.11 0.010 1.000 1 2015 2015
dbSNP: rs4789936
rs4789936
TIMP2 ; CEP295NL
4 0.882 0.120 17 78901892 5 prime UTR variant C/T snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs7342880
rs7342880
TIMP2 ; CEP295NL
1 1.000 0.040 17 78878430 intron variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs35611929
rs35611929
AP3B1
1 1.000 0.040 5 78172000 intron variant G/A snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs631465
rs631465
F2RL1
1 1.000 0.040 5 76833228 synonymous variant T/C snv 0.92 0.95 0.010 < 0.001 1 2019 2019
dbSNP: rs1529505
rs1529505
F2RL1
1 1.000 0.040 5 76819138 5 prime UTR variant C/G;T snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs2242991
rs2242991
F2RL1
1 1.000 0.040 5 76819034 5 prime UTR variant C/G snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs200975846
rs200975846
CCDC33
2 0.925 0.040 15 74325252 intron variant T/- delins 0.700 1.000 1 2019 2019
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 < 0.001 1 2019 2019
dbSNP: rs8067763
rs8067763 		1 1.000 0.040 17 72016798 regulatory region variant G/A snv 0.68 0.700 1.000 1 2019 2019
dbSNP: rs4747096
rs4747096
ADAMTS14
2 0.925 0.040 10 70758253 missense variant A/G;T snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs3821262
rs3821262
TGFA
2 0.925 0.040 2 70493874 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs34195470
rs34195470
WWP2
1 1.000 0.040 16 69921787 intron variant A/G snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs6499244
rs6499244
NFAT5
2 1.000 0.040 16 69701368 3 prime UTR variant T/A snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs7193778
rs7193778 		4 0.882 0.120 16 69529987 intergenic variant C/G;T snv 0.010 1.000 1 2019 2019