Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0013595
Disease: Eczema
Eczema 		0.900 1.000 15 2006 2019
dbSNP: rs11584340
rs11584340
FLG ; FLG-AS1
0.827 0.200 1 152313454 missense variant G/A snv 0.27 0.19
CUI: C0013595
Disease: Eczema
Eczema 		0.040 1.000 4 2011 2015
dbSNP: rs138726443
rs138726443
FLG ; FLG-AS1
0.790 0.200 1 152307547 stop gained G/A;C;T snv 2.8E-03; 4.0E-06; 1.6E-05
CUI: C0013595
Disease: Eczema
Eczema 		0.040 1.000 4 2009 2020
dbSNP: rs150597413
rs150597413
FLG ; FLG-AS1
0.827 0.160 1 152305146 stop gained G/A;C;T snv 3.6E-05; 4.0E-06; 1.5E-03
CUI: C0013595
Disease: Eczema
Eczema 		0.030 1.000 3 2010 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0013595
Disease: Eczema
Eczema 		0.020 0.500 2 2012 2013
dbSNP: rs121909626
rs121909626
FLG ; FLG-AS1
0.882 0.120 1 152307225 stop gained G/C;T snv 2.0E-05
CUI: C0013595
Disease: Eczema
Eczema 		0.020 1.000 2 2007 2008
dbSNP: rs146466242
rs146466242
FLG ; FLG-AS1
0.851 0.120 1 152302822 stop gained T/A;C snv 1.4E-03; 8.0E-06
CUI: C0013595
Disease: Eczema
Eczema 		0.020 1.000 2 2015 2017
dbSNP: rs2228145
rs2228145
IL6R
0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05
CUI: C0013595
Disease: Eczema
Eczema 		0.710 1.000 2 2013 2019
dbSNP: rs877776
rs877776
FLG-AS1 ; LOC112268240
0.925 0.120 1 152205542 intron variant C/G;T snv
CUI: C0013595
Disease: Eczema
Eczema 		0.020 0.500 2 2010 2013
dbSNP: rs10489854
rs10489854 		1.000 0.040 1 159279069 non coding transcript exon variant C/T snv 8.3E-02
CUI: C0013595
Disease: Eczema
Eczema 		0.010 1.000 1 2010 2010
dbSNP: rs10910095
rs10910095
LOC100996583
1.000 0.040 1 2579316 upstream gene variant G/A;C snv
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 1 2019 2019
dbSNP: rs11204971
rs11204971
FLG-AS1
0.925 0.120 1 152286602 intron variant A/G snv 0.15
CUI: C0013595
Disease: Eczema
Eczema 		0.010 1.000 1 2012 2012
dbSNP: rs11265449
rs11265449
SLAMF1
1.000 0.040 1 160612458 intron variant C/G snv 0.45 0.36
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 1 2019 2019
dbSNP: rs113136594
rs113136594
FLG ; FLG-AS1
0.925 0.120 1 152313436 missense variant G/A;C;T snv 6.0E-04; 4.0E-06; 8.0E-06
CUI: C0013595
Disease: Eczema
Eczema 		0.010 1.000 1 2017 2017
dbSNP: rs114269697
rs114269697
JAK1
1.000 0.040 1 64848529 intron variant C/A snv 7.3E-03
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 1 2019 2019
dbSNP: rs11466681
rs11466681
TNFRSF18
1.000 0.040 1 1206007 intron variant C/T snv 6.1E-02
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 1 2019 2019
dbSNP: rs114997373
rs114997373 		1.000 0.040 1 45535906 downstream gene variant G/A snv 1.2E-02
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 1 2019 2019
dbSNP: rs115288876
rs115288876
LOC105371442
0.925 0.120 1 152027641 intron variant G/A snv 2.5E-02
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 1 2019 2019
dbSNP: rs115390301
rs115390301
OTUD7B
1.000 0.040 1 149981477 intron variant G/A snv 1.1E-02
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 1 2019 2019
dbSNP: rs115746363
rs115746363
FLG ; FLG-AS1
0.882 0.120 1 152312410 stop gained G/A;C snv 6.0E-04
CUI: C0013595
Disease: Eczema
Eczema 		0.010 1.000 1 2018 2018
dbSNP: rs1201113
rs1201113
TNFRSF8
1.000 0.040 1 12084377 intron variant G/A snv 0.16
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 1 2019 2019
dbSNP: rs12068304
rs12068304
BATF3
1.000 0.040 1 212691650 intron variant A/G snv 0.20
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 1 2019 2019
dbSNP: rs1214598
rs1214598
CD247 ; LOC101928512
0.925 0.120 1 167457187 non coding transcript exon variant G/A;C;T snv
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 1 2019 2019
dbSNP: rs12568784
rs12568784
FLG-AS1 ; FLG2
0.925 0.120 1 152350656 stop gained G/A;T snv 0.24 0.21
CUI: C0013595
Disease: Eczema
Eczema 		0.010 < 0.001 1 2014 2014
dbSNP: rs12760882
rs12760882 		1.000 0.040 1 9285727 intergenic variant T/A snv 0.32
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 1 2019 2019