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: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2004 2006
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2005 2005
dbSNP: rs11554825
rs11554825
GPBAR1
3 0.882 0.120 2 218261086 5 prime UTR variant C/T snv 0.44 0.010 1.000 1 2010 2010
dbSNP: rs2844559
rs2844559 		1 1.000 0.040 6 31372298 intron variant C/T snv 8.0E-02 0.700 1.000 1 2010 2010
dbSNP: rs3099844
rs3099844
MICB-DT
13 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs3197999
rs3197999
APEH ; MST1
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.720 1.000 4 2011 2013
dbSNP: rs11168249
rs11168249
HDAC7
9 0.807 0.120 12 47814585 intron variant T/C snv 0.50 0.700 1.000 2 2011 2013
dbSNP: rs13119723
rs13119723
KIAA1109
8 0.807 0.280 4 122297158 intron variant A/G snv 0.10 0.710 1.000 2 2011 2012
dbSNP: rs10905718
rs10905718 		1 1.000 0.040 10 6072893 upstream gene variant A/G snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs13151961
rs13151961
KIAA1109
7 0.827 0.200 4 122194347 intron variant A/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs17683107
rs17683107
GAS7
1 1.000 0.040 17 9921085 intron variant G/A snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs3134883
rs3134883
IL2RA
1 1.000 0.040 10 6058762 intron variant G/A snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs4391646
rs4391646
LOC112268276
1 1.000 0.040 1 166208147 intron variant T/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs6678400
rs6678400
LOC112268276
1 1.000 0.040 1 166208523 intron variant G/T snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs6720394
rs6720394
MIR4435-2HG
2 0.925 0.040 2 111231795 intron variant T/G snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs6822844
rs6822844 		20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs6840978
rs6840978
IL21-AS1
10 0.776 0.160 4 122633552 intron variant C/T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs6971637
rs6971637
LOC101927243
1 1.000 0.040 7 77425403 non coding transcript exon variant C/T snv 7.1E-03 0.700 1.000 1 2011 2011
dbSNP: rs7791854
rs7791854 		1 1.000 0.040 7 77427905 downstream gene variant C/T snv 3.3E-03 0.700 1.000 1 2011 2011
dbSNP: rs3748816
rs3748816
MMEL1
7 0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46 0.700 1.000 2 2012 2013
dbSNP: rs601338
rs601338
FUT2 ; LOC105447645
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.020 1.000 2 2012 2014
dbSNP: rs13132245
rs13132245 		1 1.000 0.040 4 122128437 intergenic variant A/G snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs3749171
rs3749171
GPR35
9 0.807 0.120 2 240630275 missense variant C/T snv 0.16; 9.4E-06 0.19 0.020 1.000 2 2013 2019
dbSNP: rs7426056
rs7426056 		6 0.807 0.120 2 203747335 regulatory region variant A/G snv 0.81 0.710 1.000 2 2013 2017