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: rs1333739
rs1333739
RAVER2
1 1 64827766 intron variant A/G;T snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs146054764
rs146054764
CASP9
4 0.882 0.160 1 15506000 missense variant T/G snv 1.4E-03; 8.0E-06 1.4E-03 0.010 1.000 1 2015 2015
dbSNP: rs17612648
rs17612648
PTPRC
2 1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs1772408
rs1772408
IFI16
2 1 159035859 intron variant A/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs1800601
rs1800601
NTRK1 ; SH2D2A
4 0.882 1 156815825 5 prime UTR variant G/A;T snv 0.67; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1889740
rs1889740
ARNT
1 1 150827279 intron variant C/T snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs200395694
rs200395694
MEF2D
2 1.000 0.080 1 156480799 intron variant G/A;C;T snv 2.7E-05; 1.2E-04; 1.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs2066363
rs2066363
ADGRL2
14 0.724 0.240 1 81771892 intron variant C/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2013 2013
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: rs2780814
rs2780814
RAVER2
2 1.000 0.040 1 64827272 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2780889
rs2780889
JAK1 ; RAVER2
1 1 64833108 3 prime UTR variant A/T snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs296547
rs296547
MROH3P
5 0.882 0.200 1 200923009 intron variant T/C snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs305217
rs305217
PKN2
2 1.000 0.080 1 88754789 intron variant G/A snv 8.6E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs34884278
rs34884278 		14 0.724 0.240 1 172869708 intron variant C/T snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs3748816
rs3748816
MMEL1
7 0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46 0.700 1.000 1 2011 2011
dbSNP: rs3761959
rs3761959
FCRL3
7 0.827 0.320 1 157699488 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3789604
rs3789604
RSBN1 ; AP4B1-AS1
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 < 0.001 1 2012 2012
dbSNP: rs3890745
rs3890745
MMEL1
4 0.925 0.200 1 2622185 intron variant T/C snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs396991
rs396991
FCGR3A
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2012 2012
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: rs55705316
rs55705316 		14 0.724 0.240 1 206760172 regulatory region variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs6689858
rs6689858
CRB1
14 0.724 0.240 1 197406337 intron variant T/C snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs72920202
rs72920202
JAK1
4 0.882 1 64895266 intron variant A/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs7523907
rs7523907
CD247 ; LOC101928512
3 1.000 0.080 1 167458010 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2011 2011