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: rs1020388
rs1020388 		2 5 56264200 upstream gene variant T/G snv 0.34 0.800 1.000 1 2011 2011
dbSNP: rs10460003
rs10460003
LINC01882
2 18 12747013 intron variant C/T snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs10752747
rs10752747
MMEL1
2 1 2593476 intron variant G/T snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs10892286
rs10892286
DDX6
2 11 118771376 intron variant A/C snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs10932019
rs10932019 		2 2 203764087 downstream gene variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs11043097
rs11043097
LINC02752
2 11 11114248 intron variant T/C snv 0.15 0.700 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: rs11984075
rs11984075
ELMO1
2 7 37397251 intron variant A/G snv 0.14 0.800 1.000 1 2011 2011
dbSNP: rs12138909
rs12138909
MMEL1
2 1 2607299 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs1355208
rs1355208 		2 2 30222456 intergenic variant A/G snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs1476330207
rs1476330207
IRF3
1 19 49660781 frameshift variant G/- delins 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs1772408
rs1772408
IFI16
2 1 159035859 intron variant A/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs17876183
rs17876183
PON2
1 7 95434956 missense variant C/T snv 1.2E-02 1.4E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs17876205
rs17876205 		1 7 95403792 downstream gene variant C/G snv 1.4E-02 0.010 < 0.001 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: rs2155433
rs2155433 		2 11 118742212 intron variant G/A snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs2893008
rs2893008
IL21-AS1
2 4 122631659 intron variant A/G snv 5.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs4288027
rs4288027
KIAA1109
2 4 122262050 intron variant A/C;G snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs4374642
rs4374642
KIAA1109
2 4 122179956 intron variant T/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs4626515
rs4626515 		2 7 140204330 intergenic variant T/C snv 0.22 0.700 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: rs636393
rs636393 		2 6 137686393 intron variant G/T snv 0.66 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: rs756207760
rs756207760
CXCR4
2 2 136115275 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs7678445
rs7678445
KIAA1109
2 4 122361617 intron variant G/A;T snv 0.700 1.000 1 2011 2011