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: rs312691
rs312691 		2 0.925 0.280 17 70330197 intron variant T/C snv 0.25 0.730 1.000 4 2012 2019
dbSNP: rs623011
rs623011 		5 0.827 0.320 17 70263305 intergenic variant A/G snv 0.74 0.710 1.000 3 2012 2019
dbSNP: rs12451295
rs12451295 		2 0.925 0.280 17 70380682 intergenic variant C/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs1352714
rs1352714
DCHS2
2 0.925 0.280 4 154322452 missense variant T/C snv 0.95 0.90 0.700 1.000 1 2019 2019
dbSNP: rs1521
rs1521 		3 0.882 0.320 6 31382927 upstream gene variant C/T snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs16975694
rs16975694 		2 0.925 0.280 17 70384516 intergenic variant T/C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs16975792
rs16975792 		2 0.925 0.280 17 70437584 intergenic variant A/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs17714860
rs17714860 		2 0.925 0.280 17 70276213 intergenic variant G/A snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs2186564
rs2186564
AAMDC ; RSF1
2 0.925 0.280 11 77872220 missense variant G/A snv 0.14 0.13 0.700 1.000 1 2019 2019
dbSNP: rs2281388
rs2281388
HLA-DPA2
4 0.851 0.400 6 33092341 non coding transcript exon variant G/A snv 2.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs312729
rs312729 		2 0.925 0.280 17 70310696 downstream gene variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs411079
rs411079 		2 0.925 0.280 17 70295230 regulatory region variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4947296
rs4947296 		5 0.851 0.440 6 31090401 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs5912838
rs5912838
LOC107985690
2 0.925 0.280 X 79241621 intergenic variant A/C snv 0.700 1.000 1 2019 2019
dbSNP: rs6457617
rs6457617 		11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7222503
rs7222503 		2 0.925 0.280 17 70303644 intergenic variant G/T snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs527236151
rs527236151
KCNJ18
1 1.000 0.160 17 21702913 missense variant C/T snv 3.2E-04 0.700 0
dbSNP: rs527236152
rs527236152
KCNJ18
2 0.925 0.160 17 21703205 missense variant C/T snv 3.5E-05 0.700 0
dbSNP: rs527236153
rs527236153
KCNJ18
2 0.925 0.160 17 21703214 frameshift variant C/- delins 0.700 0
dbSNP: rs527236154
rs527236154
KCNJ18
2 0.925 0.160 17 21703288 missense variant G/A snv 5.6E-05 0.700 0
dbSNP: rs527236155
rs527236155
KCNJ18
1 1.000 0.160 17 21703384 missense variant G/A;C snv 0.700 0
dbSNP: rs527236156
rs527236156
KCNJ18
1 1.000 0.160 17 21703981 stop gained C/T snv 9.8E-03 0.700 0
dbSNP: rs527236157
rs527236157
KCNJ18
1 1.000 0.160 17 21704005 stop gained C/T snv 7.8E-03 0.700 0
dbSNP: rs527236158
rs527236158
KCNJ18
2 0.925 0.160 17 21703847 missense variant C/T snv 1.6E-03 0.700 0
dbSNP: rs527236159
rs527236159
KCNJ18
2 0.925 0.160 17 21703883 missense variant A/G snv 0.700 0