Source: CURATED ×
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: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
4 0.701 0.360 20 63678486 intron variant A/C;G snv 0.810 0.667 2 2011 2015
dbSNP: rs7927894
rs7927894 		5 0.742 0.320 11 76590272 upstream gene variant C/T snv 0.35 0.840 0.833 2 2009 2017
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
28 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.800 1.000 4 2006 2018
dbSNP: rs479844
rs479844 		5 0.851 0.160 11 65784486 upstream gene variant A/G snv 0.44 0.820 1.000 3 2011 2015
dbSNP: rs12144049
rs12144049 		1 1.000 0.120 1 152468434 intergenic variant C/G;T snv 0.700 1.000 2 2015 2015
dbSNP: rs1295686
rs1295686
IL13 ; TH2LCRR
3 0.882 0.160 5 132660151 intron variant T/A;C snv 0.68 0.800 1.000 2 2013 2015
dbSNP: rs13015714
rs13015714
IL18R1
2 0.882 0.200 2 102355405 intron variant G/T snv 0.77 0.800 1.000 2 2012 2015
dbSNP: rs176095
rs176095
PBX2 ; GPSM3
3 0.925 0.160 6 32190542 upstream gene variant A/G snv 0.22 0.800 1.000 2 2012 2015
dbSNP: rs2155219
rs2155219 		12 0.732 0.280 11 76588150 upstream gene variant G/T snv 0.52 0.810 1.000 2 2011 2015
dbSNP: rs2164983
rs2164983 		1 0.925 0.120 19 8679120 downstream gene variant C/A;G snv 0.19 0.810 1.000 2 2011 2015
dbSNP: rs2212434
rs2212434 		1 1.000 0.120 11 76570549 intergenic variant C/T snv 0.39 0.700 1.000 2 2015 2015
dbSNP: rs2897442
rs2897442
KIF3A
1 0.925 0.120 5 132713335 intron variant C/A;T snv 0.820 1.000 2 2011 2015
dbSNP: rs10067777
rs10067777
TMEM232
1 1.000 0.120 5 110490595 intron variant A/G snv 7.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs10199605
rs10199605
LINC00299
1 1.000 0.120 2 8354967 intron variant G/A snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs10214237
rs10214237 		1 1.000 0.120 5 35883632 downstream gene variant T/C snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs10445308
rs10445308
IKZF3
5 0.851 0.240 17 39781794 intron variant C/T snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs10738626
rs10738626 		1 1.000 0.120 9 22373458 intergenic variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10791824
rs10791824
OVOL1 ; OVOL1-AS1
3 0.882 0.160 11 65791795 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10888499
rs10888499 		1 1.000 0.120 1 152560266 intergenic variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10995251
rs10995251
ZNF365 ; LOC105378327
1 1.000 0.120 10 62638706 intron variant C/T snv 0.29 0.800 1.000 1 2012 2012
dbSNP: rs11204971
rs11204971
FLG-AS1
1 0.925 0.120 1 152286602 intron variant A/G snv 0.15 0.710 1.000 1 2011 2012
dbSNP: rs11205006
rs11205006 		1 1.000 0.120 1 152467700 intergenic variant A/T snv 0.72 0.700 1.000 1 2015 2015