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: rs7927894
rs7927894 		12 0.742 0.320 11 76590272 upstream gene variant C/T snv 0.35 0.050 0.800 5 2010 2017
dbSNP: rs1566446604
rs1566446604
CHD8
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2016 2020
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.020 0.500 2 2011 2011
dbSNP: rs1837253
rs1837253 		10 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 0.020 1.000 2 2015 2017
dbSNP: rs324011
rs324011
STAT6
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.020 1.000 2 2013 2015
dbSNP: rs877776
rs877776
FLG-AS1 ; LOC112268240
2 0.925 0.120 1 152205542 intron variant C/G;T snv 0.020 0.500 2 2010 2013
dbSNP: rs10131567
rs10131567 		1 1.000 0.040 14 35395672 intergenic variant G/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs10244416
rs10244416 		1 1.000 0.040 7 20536128 intergenic variant C/A;T snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs10245867
rs10245867
JAZF1
2 0.925 0.080 7 28102567 intron variant G/T snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs10249788
rs10249788
AHR ; LOC101927609
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1025549
rs1025549
PLCL1
1 1.000 0.040 2 198016459 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1032841
rs1032841
LINC01814
1 1.000 0.040 2 8526108 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10468514
rs10468514 		1 1.000 0.040 17 45378874 intergenic variant A/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs10489854
rs10489854 		1 1.000 0.040 1 159279069 non coding transcript exon variant C/T snv 8.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs1050153
rs1050153
TFRC
2 0.925 0.120 3 196049444 3 prime UTR variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs10519068
rs10519068
RORA
2 0.925 0.120 15 60776505 intron variant G/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs1059513
rs1059513
NAB2 ; STAT6
11 0.776 0.240 12 57095926 3 prime UTR variant T/C snv 8.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs10756796
rs10756796
BNC2
1 1.000 0.040 9 16730976 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs10791824
rs10791824
OVOL1 ; OVOL1-AS1
3 0.882 0.160 11 65791795 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10822037
rs10822037
ZNF365
1 1.000 0.040 10 62616798 intron variant T/C snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs10910095
rs10910095
LOC100996583
2 1.000 0.040 1 2579316 upstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10937319
rs10937319
RTP2 ; LOC100131635
1 1.000 0.040 3 187711669 intron variant T/A;C snv 0.700 1.000 1 2019 2019