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: rs1064261
rs1064261
MTOR
3 0.925 0.080 1 11228701 missense variant G/A;T snv 0.75; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs10746463
rs10746463
CD55
4 0.851 0.200 1 207337251 missense variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs111238176
rs111238176
FASLG
4 0.851 0.160 1 172665840 missense variant A/G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs112754928
rs112754928
SPOCD1
2 0.925 0.080 1 31815123 missense variant G/A;T snv 4.5E-03; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs114673809
rs114673809
MTHFR ; C1orf167
3 0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs1200055659
rs1200055659
S100A14 ; S100A16
4 0.851 0.080 1 153614902 missense variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12083239
rs12083239 		3 0.925 0.080 1 39985357 intergenic variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs12733285
rs12733285
ADIPOR1
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs12904
rs12904
EFNA1 ; SLC50A1
5 0.827 0.160 1 155134221 3 prime UTR variant G/A snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs1342387
rs1342387
ADIPOR1
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs140081212
rs140081212
GBAP1
2 0.925 0.080 1 155215184 non coding transcript exon variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1635566
rs1635566
PADI4
1 1.000 0.080 1 17356662 intron variant A/G snv 0.70 0.010 1.000 1 2016 2016
dbSNP: rs1640827
rs1640827
TLR5
3 0.882 0.120 1 223138265 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs17163737
rs17163737
TLR5
3 0.882 0.120 1 223129809 intron variant G/T snv 7.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs1801159
rs1801159
DPYD
2 0.925 0.080 1 97515839 missense variant T/C snv 0.20 0.18 0.010 1.000 1 2012 2012
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2012 2012
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2010 2010
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2065955
rs2065955
FLG ; FLG-AS1
2 0.925 0.080 1 152304579 missense variant C/G snv 0.30 0.35 0.010 1.000 1 2016 2016
dbSNP: rs2172362
rs2172362
LOC105378667
3 0.925 0.080 1 39829228 intergenic variant T/C snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs230310
rs230310
TRIT1
3 0.925 0.080 1 39842047 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2689154
rs2689154 		3 0.882 0.080 1 238745053 intergenic variant C/A;G;T snv 0.010 1.000 1 2017 2017