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: rs550084704
rs550084704
AATK ; MIR338 ; MIR657
1 1.000 0.040 17 81126523 missense variant G/A snv 4.0E-05 8.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs558671948
rs558671948
AATK
1 1.000 0.040 17 81121922 missense variant C/T snv 1.3E-05 5.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs628977
rs628977
ADAM33
4 0.851 0.160 20 3669074 intron variant T/C snv 0.65 0.010 < 0.001 1 2008 2008
dbSNP: rs6701216
rs6701216
LCE1C
2 0.925 0.040 1 152806050 intron variant C/T snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs766578118
rs766578118
TBCD ; ZNF750
1 1.000 0.040 17 82830615 missense variant C/G;T snv 3.2E-05; 3.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs772818947
rs772818947
AATK
1 1.000 0.040 17 81122231 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs77875845
rs77875845
TEPSIN ; LOC105371925
1 1.000 0.040 17 81231983 missense variant C/T snv 2.6E-03 9.5E-04 0.010 1.000 1 2008 2008
dbSNP: rs7993214
rs7993214
COG6
2 0.925 0.040 13 39776775 intron variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs11209032
rs11209032 		10 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs11465804
rs11465804
IL23R
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs1886734
rs1886734 		1 1.000 0.040 1 152618666 downstream gene variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs4085613
rs4085613 		5 0.827 0.160 1 152577542 downstream gene variant T/G snv 0.59 0.800 1.000 1 2009 2009
dbSNP: rs4845454
rs4845454 		2 0.925 0.040 1 152619708 downstream gene variant C/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs6908425
rs6908425
CDKAL1
11 0.752 0.320 6 20728500 intron variant T/C snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs3213094
rs3213094
IL12B ; LOC107986469
2 0.925 0.080 5 159323761 intron variant C/G;T snv 0.26 0.800 1.000 2 2009 2010
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 1.000 2 2009 2010
dbSNP: rs10088247
rs10088247
CSMD1
1 1.000 0.040 8 3826677 intron variant C/T snv 0.76 0.700 1.000 1 2010 2010
dbSNP: rs1008953
rs1008953 		1 1.000 0.040 20 45352086 upstream gene variant T/C snv 0.79 0.800 1.000 1 2010 2010
dbSNP: rs10930046
rs10930046
IFIH1
3 0.882 0.200 2 162281473 missense variant T/C snv 9.7E-02 0.16 0.010 1.000 1 2010 2010
dbSNP: rs13210247
rs13210247
TRAF3IP2 ; TRAF3IP2-AS1
3 0.882 0.280 6 111601517 non coding transcript exon variant A/G snv 0.10 0.700 1.000 1 2010 2010
dbSNP: rs1343152
rs1343152
IL23R
1 1.000 0.040 1 67238649 intron variant A/C snv 0.33 0.010 1.000 1 2010 2010
dbSNP: rs151823
rs151823
ERAP1
1 1.000 0.040 5 96824289 intron variant A/C snv 0.90 0.700 1.000 1 2010 2010
dbSNP: rs1975974
rs1975974
UBBP4
1 1.000 0.040 17 22180454 intron variant A/G snv 0.18 0.800 1.000 1 2010 2010
dbSNP: rs2431697
rs2431697 		10 0.776 0.240 5 160452971 intron variant T/C snv 0.44 0.700 1.000 1 2010 2010
dbSNP: rs280519
rs280519
TYK2
10 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.800 1.000 1 2010 2010