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: rs1250552
rs1250552
ZMIZ1
5 0.882 0.200 10 79298270 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs2298428
rs2298428
YDJC
9 0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18 0.800 1.000 1 2011 2011
dbSNP: rs4821112
rs4821112
UBE2L3
4 22 21610472 intron variant G/A snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs5754217
rs5754217
UBE2L3
7 0.925 0.120 22 21585386 intron variant G/T snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs11203203
rs11203203
UBASH3A
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.800 1.000 1 2011 2011
dbSNP: rs4648356
rs4648356
TTC34
3 1.000 0.080 1 2792599 intron variant C/A snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs3761847
rs3761847
TRAF1
8 0.827 0.200 9 120927961 intron variant G/A snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs10488631
rs10488631
TNPO3
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs4958881
rs4958881
TNIP1
7 0.827 0.280 5 151070675 intron variant T/C snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2013 2013
dbSNP: rs1738074
rs1738074
TAGAP ; LOC105378083 ; LOC107986664
9 0.790 0.320 6 159044945 5 prime UTR variant T/C snv 0.49 0.700 1.000 1 2011 2011
dbSNP: rs926657
rs926657
TAGAP ; LOC105378083
3 6 159042420 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs9295089
rs9295089
TAGAP ; LOC105378083
2 6 159042932 non coding transcript exon variant T/C snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.800 1.000 1 2011 2011
dbSNP: rs1194849
rs1194849
SPRED2
2 2 65379519 intron variant T/C snv 0.49 0.700 1.000 1 2011 2011
dbSNP: rs1876518
rs1876518
SPRED2
2 2 65381775 intron variant C/T snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs934734
rs934734
SPRED2
4 0.925 0.160 2 65368452 intron variant G/A;T snv 0.54 0.700 1.000 1 2011 2011
dbSNP: rs12928822
rs12928822
RMI2 ; LOC105371082
5 0.882 0.200 16 11310036 intron variant C/T snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs13031237
rs13031237
REL
3 1.000 0.120 2 60908994 intron variant G/T snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs13003464
rs13003464
PUS10
7 0.827 0.200 2 60959694 intron variant A/G snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs6706689
rs6706689
PUS10
2 2 60943910 intron variant A/G snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.800 1.000 2 2011 2012
dbSNP: rs1893217
rs1893217
PTPN2
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.800 1.000 1 2011 2011
dbSNP: rs657555
rs657555
PTPN2
4 0.925 0.080 18 12847137 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10491322
rs10491322
PPP2CA
3 0.925 0.120 5 134194449 3 prime UTR variant A/G snv 9.5E-02 0.010 1.000 1 2018 2018