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: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 < 0.001 1 2018 2018
dbSNP: rs1126407
rs1126407
LGALS8 ; LOC107985367
3 0.925 0.200 1 236537507 missense variant T/A snv 0.61 0.61 0.010 1.000 1 2012 2012
dbSNP: rs2737713
rs2737713
LGALS8 ; LOC107985367
2 1.000 0.120 1 236537507 missense variant T/A snv 0.010 1.000 1 2012 2012
dbSNP: rs886424
rs886424
LINC00243
10 0.776 0.320 6 30814225 non coding transcript exon variant C/T snv 7.1E-02 8.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs6998967
rs6998967
LOC105375922
1 1.000 0.120 8 80451970 intron variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs2855812
rs2855812
MICB
13 0.790 0.360 6 31504943 intron variant G/T snv 0.23 0.700 1.000 1 2012 2012
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 2012 2012
dbSNP: rs3131379
rs3131379
MSH5 ; MSH5-SAPCD1
10 0.752 0.440 6 31753256 intron variant G/A snv 6.4E-02 7.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
dbSNP: rs886403
rs886403
MUC21
2 0.925 0.160 6 30989841 3 prime UTR variant T/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs1634718
rs1634718
MUC22
3 0.925 0.160 6 31005088 regulatory region variant A/G snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs3132580
rs3132580
MUCL3 ; SFTA2 ; HCG21
7 0.790 0.360 6 30952347 missense variant G/A snv 8.0E-02 9.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs3131296
rs3131296
NOTCH4
6 0.807 0.320 6 32205216 intron variant C/T snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs17209237
rs17209237
NR3C1
1 1.000 0.120 5 143277647 downstream gene variant A/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs1265159
rs1265159
POU5F1
3 0.882 0.240 6 31172270 intron variant G/A snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs887464
rs887464
POU5F1 ; PSORS1C3
2 0.925 0.200 6 31178143 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11229
rs11229
PRRC2A
6 0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17 0.700 1.000 1 2012 2012
dbSNP: rs3115663
rs3115663
PRRC2A ; MIR6832
7 0.827 0.360 6 31634066 non coding transcript exon variant T/C snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs3130564
rs3130564
PSORS1C1
7 0.790 0.360 6 31133897 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 1.000 5 2008 2015
dbSNP: rs9963862
rs9963862
RBBP8
1 1.000 0.120 18 23007948 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs9261290
rs9261290
RNF39
10 0.807 0.280 6 30070870 3 prime UTR variant T/C;G snv 5.2E-02; 7.2E-06 0.700 1.000 1 2012 2012
dbSNP: rs12653117
rs12653117
SEMA5A
1 1.000 0.120 5 9386473 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs3753381
rs3753381
SLAMF1
1 1.000 0.120 1 160629620 intron variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2018 2018