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: rs1057518775
rs1057518775
KCNJ11
4 0.851 0.160 11 17387907 missense variant G/A;C snv 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1555525115
rs1555525115
ANKRD11
5 0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins 0.700 0
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.020 0.500 2 2001 2014
dbSNP: rs1805011
rs1805011
IL4R
8 0.776 0.320 16 27362551 missense variant A/C;G;T snv 0.13; 1.2E-04; 3.6E-05 0.020 1.000 2 2001 2016
dbSNP: rs555743307
rs555743307
IL4R
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.040 0.750 4 2002 2016
dbSNP: rs2303067
rs2303067
SPINK5
5 0.851 0.160 5 148101392 missense variant A/G snv 0.52 0.44 0.060 1.000 6 2004 2012
dbSNP: rs2228428
rs2228428
CCR4
2 0.925 0.120 3 32954436 synonymous variant C/T snv 0.25 0.23 0.010 < 0.001 1 2004 2004
dbSNP: rs2303063
rs2303063
SPINK5
4 0.882 0.160 5 148100464 missense variant G/A snv 0.52 0.44 0.020 1.000 2 2005 2012
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.020 1.000 2 2005 2014
dbSNP: rs1800875
rs1800875
CMA1
12 0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41 0.010 1.000 1 2005 2005
dbSNP: rs370555009
rs370555009
LTC4S
1 1.000 0.120 5 179794090 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs436857
rs436857
IL12RB1
2 0.925 0.120 19 18086825 5 prime UTR variant G/A snv 0.16 0.17 0.010 1.000 1 2005 2005
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.800 1.000 16 2006 2018
dbSNP: rs320995
rs320995
CYSLTR1
4 0.851 0.240 X 78272820 missense variant G/A;C;T snv 0.73 0.010 1.000 1 2006 2006
dbSNP: rs878906
rs878906
NAT9
2 0.925 0.120 17 74773195 non coding transcript exon variant T/C snv 0.51 0.010 1.000 1 2006 2006
dbSNP: rs895691
rs895691
NAT9
2 0.925 0.120 17 74770161 downstream gene variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs121909626
rs121909626
FLG ; FLG-AS1
4 0.882 0.120 1 152307225 stop gained G/C;T snv 2.0E-05 0.020 1.000 2 2007 2008
dbSNP: rs795467
rs795467
IL18
2 0.925 0.120 11 112160357 intron variant G/A;C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.060 0.833 6 2008 2019
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs444762
rs444762
GATA3
2 0.925 0.120 10 8061297 intron variant A/C snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs7927894
rs7927894 		12 0.742 0.320 11 76590272 upstream gene variant C/T snv 0.35 0.840 0.833 6 2009 2017
dbSNP: rs146466242
rs146466242
FLG ; FLG-AS1
4 0.851 0.120 1 152302822 stop gained T/A;C snv 1.4E-03; 8.0E-06 0.030 1.000 3 2009 2017
dbSNP: rs2853209
rs2853209
ADAM33
5 0.827 0.200 20 3670825 intron variant T/A snv 0.41 0.010 1.000 1 2009 2009