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: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1546124
rs1546124
CRISPLD2
7 0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 0.020 1.000 2 2011 2011
dbSNP: rs2006771
rs2006771
SFI1
2 0.925 0.120 22 31602626 missense variant G/A snv 0.41 0.44 0.700 1.000 1 2017 2017
dbSNP: rs2235375
rs2235375
IRF6
7 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs2013162
rs2013162
IRF6
5 0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs6126344
rs6126344
SALL4
2 0.925 0.120 20 51790963 missense variant A/C;T snv 0.35; 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs957448
rs957448
VIRMA
2 0.925 0.120 8 94529074 synonymous variant A/G;T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs545809
rs545809
GRHL3 ; STPG1
3 0.882 0.200 1 24364274 missense variant T/A snv 0.29 0.26 0.010 < 0.001 1 2016 2016
dbSNP: rs2269529
rs2269529
MYH9 ; MIR6819
5 0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2076056
rs2076056
JARID2
3 0.882 0.200 6 15487551 intron variant C/A;G;T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs2166975
rs2166975
TGFA
5 0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23 0.010 1.000 1 2007 2007
dbSNP: rs2486668
rs2486668
GRHL3
6 0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17 0.010 < 0.001 1 2016 2016
dbSNP: rs3746101
rs3746101
MKNK2
2 0.925 0.120 19 2050824 missense variant G/T snv 2.8E-05; 9.5E-02 7.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs2235371
rs2235371
IRF6
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.730 0.750 4 2009 2019
dbSNP: rs17010021
rs17010021
LOXL3
3 0.882 0.200 2 74534412 missense variant T/A snv 8.2E-02 4.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs2240307
rs2240307
AXIN2
3 0.882 0.200 17 65558189 synonymous variant A/G snv 4.4E-02 4.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs41268753
rs41268753
GRHL3
3 0.882 0.200 1 24342967 missense variant C/T snv 2.3E-02 2.3E-02 0.730 0.750 4 2016 2018
dbSNP: rs146753226
rs146753226
SIX2
3 0.882 0.200 2 45006255 missense variant C/T snv 1.1E-04 4.0E-04 0.010 1.000 1 2020 2020
dbSNP: rs140291094
rs140291094
STAC3
11 0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.020 1.000 2 2002 2013
dbSNP: rs201002930
rs201002930
WNT10A
6 0.827 0.200 2 218889997 synonymous variant C/T snv 3.2E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1332974507
rs1332974507
GREM1
2 0.925 0.120 15 32731180 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2012 2013
dbSNP: rs227731
rs227731 		4 0.882 0.120 17 56695877 intergenic variant T/A;G snv 0.700 1.000 3 2017 2018