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: rs6659932
rs6659932
IL12RB2
5 0.827 0.240 1 67336688 intron variant A/C snv 0.81 0.700 1.000 1 2019 2019
dbSNP: rs7172677
rs7172677 		2 0.925 0.080 15 75132252 intergenic variant A/C snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs7300146
rs7300146
GLT1D1
1 1.000 0.080 12 128888528 intron variant A/C snv 0.23 0.710 1.000 1 2018 2018
dbSNP: rs8321
rs8321
ZNRD1
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs844644
rs844644
TNFSF4 ; LOC100506023
1 1.000 0.080 1 173240356 intergenic variant A/C snv 0.62 0.010 1.000 1 2013 2013
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.810 1.000 5 2008 2017
dbSNP: rs12531711
rs12531711
TNPO3
5 0.827 0.200 7 128977412 intron variant A/C;G snv 0.800 1.000 3 2011 2017
dbSNP: rs2075596
rs2075596
MECP2
1 1.000 0.080 X 154031941 intron variant A/C;G snv 0.020 1.000 2 2013 2015
dbSNP: rs10946940
rs10946940 		1 1.000 0.080 6 27592808 upstream gene variant A/C;G snv 0.800 1.000 1 2014 2014
dbSNP: rs1152888
rs1152888
IRAK3
1 1.000 0.080 12 66211448 missense variant A/C;G snv 4.0E-06; 0.87 0.010 < 0.001 1 2012 2012
dbSNP: rs1194
rs1194
ZNF76
1 1.000 0.080 6 35295778 3 prime UTR variant A/C;G snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs12720356
rs12720356
TYK2
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1382568
rs1382568
BLK
2 0.925 0.160 8 11493711 intron variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1893592
rs1893592
UBASH3A
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs2227981
rs2227981
PDCD1 ; LOC105373977
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2019 2019
dbSNP: rs280519
rs280519
TYK2
10 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs3751143
rs3751143
P2RX7 ; LOC105370032
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs9275428
rs9275428 		2 0.925 0.120 6 32703201 downstream gene variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.040 0.750 4 2014 2019
dbSNP: rs396991
rs396991
FCGR3A
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.030 1.000 3 2002 2013
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2013 2017
dbSNP: rs268134
rs268134
SPRED2
3 0.925 0.120 2 65381229 intron variant A/C;G;T snv 0.700 1.000 2 2015 2016
dbSNP: rs11145763
rs11145763
CARD9
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3130342
rs3130342
TNXB
2 1.000 0.080 6 32112369 non coding transcript exon variant A/C;G;T snv 0.710 1.000 1 2008 2008
dbSNP: rs601162
rs601162 		2 0.925 0.160 9 29632144 upstream gene variant A/C;G;T snv 0.700 1.000 1 2014 2014