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: rs10760361
rs10760361
PSMB7
1 1.000 0.080 9 124415987 upstream gene variant G/T snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs10773657
rs10773657
HIP1R
1 1.000 0.080 12 122843353 intron variant C/A snv 0.81 0.700 1.000 2 2018 2018
dbSNP: rs10786662
rs10786662
PITX3 ; ELOVL3
2 1.000 0.080 10 102230055 downstream gene variant G/C snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs10800507
rs10800507
LINC01681
1 1.000 0.080 1 170216500 intron variant C/G snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs10804493
rs10804493
PHLDB2 ; PLCXD2 ; LOC105374040
1 1.000 0.080 3 111835579 intron variant G/A snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs10821415
rs10821415
AOPEP
1 1.000 0.080 9 94951177 intron variant C/A snv 0.34 0.810 1.000 3 2012 2018
dbSNP: rs10824026
rs10824026
SYNPO2L ; LOC105378360
1 1.000 0.080 10 73661450 intron variant G/A snv 0.68 0.810 1.000 3 2012 2017
dbSNP: rs10842383
rs10842383
LOC105369698
2 1.000 0.080 12 24619033 intergenic variant C/T snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs10873298
rs10873298
LINC01629
1 1.000 0.080 14 76960182 non coding transcript exon variant C/T snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs10873299
rs10873299
LINC01629
1 1.000 0.080 14 76960368 non coding transcript exon variant A/G snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs11001667
rs11001667
LRMDA
1 1.000 0.080 10 76175587 intron variant A/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs11047543
rs11047543
LOC105369698
2 1.000 0.080 12 24635405 intergenic variant G/A snv 0.12 0.720 1.000 3 2012 2019
dbSNP: rs11125871
rs11125871
USP34
1 1.000 0.080 2 61242991 intron variant C/T snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs11156751
rs11156751
AKAP6
1 1.000 0.080 14 32521231 intron variant T/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs11180703
rs11180703
LOC105369844
1 1.000 0.080 12 75830037 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs11231397
rs11231397
SLC22A25 ; SLC22A10
1 1.000 0.080 11 63183749 stop lost C/G snv 0.41 0.36 0.010 1.000 1 2017 2017
dbSNP: rs112599895
rs112599895 		1 1.000 0.080 4 110735436 intergenic variant A/G snv 1.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs11264280
rs11264280 		1 1.000 0.080 1 154890476 intergenic variant C/T snv 0.24 0.700 1.000 3 2017 2018
dbSNP: rs11265611
rs11265611
IL6R
1 1.000 0.080 1 154422649 intron variant G/A snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs1131691325
rs1131691325
GATA4
2 0.925 0.080 8 11749042 missense variant T/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1131820
rs1131820
KCNN3
2 0.925 0.080 1 154772376 synonymous variant A/G snv 0.77 0.71 0.020 1.000 2 2011 2014
dbSNP: rs113710653
rs113710653
SPATC1L
2 0.925 0.080 21 46161921 missense variant C/T snv 6.5E-02 6.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs113819537
rs113819537
SSPN
1 1.000 0.080 12 26195496 5 prime UTR variant C/G snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs114904067
rs114904067 		1 1.000 0.080 4 111683665 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018