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: rs7216064
rs7216064
BPTF
1 1.000 0.040 17 67902693 intron variant G/A snv 0.22 0.810 1.000 4 2012 2019
dbSNP: rs1057519782
rs1057519782
ALK
1 1.000 0.040 2 29220734 missense variant G/T snv 0.700 1.000 2 2012 2014
dbSNP: rs2495239
rs2495239
FOXP4-AS1
1 1.000 0.040 6 41522750 intron variant A/G snv 0.84 0.810 1.000 2 2012 2016
dbSNP: rs10248565
rs10248565
HDAC9
3 1.000 0.040 7 18935100 intron variant T/G snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs1048155
rs1048155
SSPN ; BHLHE41
1 1.000 0.040 12 26120155 3 prime UTR variant C/G snv 0.48 0.010 < 0.001 1 2007 2007
dbSNP: rs1056562
rs1056562
MPZL2
1 1.000 0.040 11 118254910 3 prime UTR variant T/C snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs1057519731
rs1057519731
MAP2K1
2 0.925 0.040 15 66436816 missense variant G/C snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519785
rs1057519785
ALK
2 1.000 0.040 2 29222404 missense variant A/C snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519787
rs1057519787
ERBB2
2 1.000 0.040 17 39711952 missense variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519856
rs1057519856
MAP2K1
2 0.925 0.040 15 66436815 missense variant T/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1057520012
rs1057520012
EPHA5
1 1.000 0.040 4 65404419 missense variant C/T snv 0.800 1.000 1 2005 2005
dbSNP: rs1057520017
rs1057520017
STK11
1 1.000 0.040 19 1220630 missense variant C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs10758203
rs10758203 		1 1.000 0.040 9 33421422 intergenic variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10842496
rs10842496
CASC1
1 1.000 0.040 12 25158555 missense variant G/A;T snv 2.8E-04; 0.33 0.010 1.000 1 2006 2006
dbSNP: rs11048413
rs11048413
SSPN ; BHLHE41
1 1.000 0.040 12 26122622 missense variant G/A snv 0.53 0.38 0.010 < 0.001 1 2007 2007
dbSNP: rs114807680
rs114807680
EPHB1
1 1.000 0.040 3 135085649 intron variant G/A snv 9.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs114928225
rs114928225 		1 1.000 0.040 2 118692164 intergenic variant T/A snv 1.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs116080888
rs116080888 		1 1.000 0.040 6 32618459 intergenic variant C/A snv 0.700 1.000 1 2017 2017
dbSNP: rs11632038
rs11632038
GALK2
1 1.000 0.040 15 49314101 intron variant A/G snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs116506680
rs116506680 		1 1.000 0.040 6 29813272 upstream gene variant T/A;C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs117151283
rs117151283
ERICH6B
1 1.000 0.040 13 45539328 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1171516758
rs1171516758
EGFR
1 1.000 0.040 7 55142377 synonymous variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs117634027
rs117634027
RNLS ; LOC101929727
1 1.000 0.040 10 88340394 intron variant G/T snv 2.6E-03 0.700 1.000 1 2018 2018
dbSNP: rs11855650
rs11855650 		1 1.000 0.040 15 70139434 intergenic variant G/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs12503223
rs12503223
LDB2
1 1.000 0.040 4 16841093 intron variant G/A snv 0.18 0.700 1.000 1 2009 2009