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: rs12507026
rs12507026 		2 4 45179317 intergenic variant A/C;T snv 0.37 0.700 1.000 2 2019 2019
dbSNP: rs12681792
rs12681792
CLVS1
2 8 61141904 intron variant C/A snv 0.23 0.700 1.000 2 2019 2019
dbSNP: rs1285245
rs1285245
LOC102723961 ; LINC01977
2 17 79823090 non coding transcript exon variant G/C snv 0.45 0.700 1.000 2 2019 2019
dbSNP: rs1285997
rs1285997
RPS6KA5
1 14 91046685 intron variant C/A;G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs13033310
rs13033310
NCKAP5
1 2 132766032 intron variant G/A snv 0.27 0.700 1.000 2 2019 2019
dbSNP: rs1320251
rs1320251 		1 17 21361084 regulatory region variant C/T snv 0.49 0.700 1.000 2 2019 2019
dbSNP: rs1320903
rs1320903
CPNE4
1 3 132039233 intron variant G/A snv 0.31 0.700 1.000 2 2019 2019
dbSNP: rs13264909
rs13264909
LINC01289 ; LINC01414
1 8 63789828 intron variant A/T snv 0.49 0.700 1.000 2 2019 2019
dbSNP: rs1363695
rs1363695
LOC105379172
1 5 131042334 intergenic variant C/T snv 0.20 0.700 1.000 2 2019 2019
dbSNP: rs140733155
rs140733155 		1 21 46628861 intergenic variant A/G snv 9.3E-03 0.700 1.000 2 2019 2019
dbSNP: rs1477890
rs1477890
LOC105374510
1 4 18510115 intron variant A/G snv 0.45 0.700 1.000 2 2019 2019
dbSNP: rs148108087
rs148108087
LINC01872
1 19 51278201 intron variant G/A snv 3.4E-02 0.700 1.000 2 2019 2019
dbSNP: rs148636479
rs148636479 		1 4 163438526 intergenic variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs1658820
rs1658820
CSMD1
1 8 4431055 intron variant G/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs16906845
rs16906845 		1 8 137202985 intergenic variant G/A snv 0.10 0.700 1.000 2 2019 2019
dbSNP: rs16989232
rs16989232 		1 20 40663144 intergenic variant G/A snv 0.45 0.700 1.000 2 2019 2019
dbSNP: rs17193211
rs17193211
DYRK1A
1 21 37513203 3 prime UTR variant C/T snv 5.5E-02 0.700 1.000 2 2019 2019
dbSNP: rs1787267
rs1787267
SALL3
1 18 78982544 intron variant G/C snv 9.2E-02 0.700 1.000 2 2019 2019
dbSNP: rs1852006
rs1852006
MAGI2
1 7 78200451 intron variant G/A snv 0.37 0.700 1.000 2 2019 2019
dbSNP: rs1884389
rs1884389 		1 20 1429938 regulatory region variant C/T snv 0.41 0.700 1.000 2 2019 2019
dbSNP: rs192829047
rs192829047 		1 5 173850244 regulatory region variant T/C snv 9.0E-03 0.700 1.000 2 2019 2019
dbSNP: rs194809
rs194809 		1 16 23793635 intergenic variant G/A snv 0.16 0.700 1.000 2 2019 2019
dbSNP: rs1982441
rs1982441
ELP3
1 8 28164252 intron variant G/T snv 9.7E-02 0.700 1.000 2 2019 2019
dbSNP: rs2051559
rs2051559
RGS12
1 4 3297073 intron variant T/C snv 0.12 0.700 1.000 2 2019 2019
dbSNP: rs2072597
rs2072597
KLF1
1 19 12885926 missense variant A/G snv 0.37 0.36 0.700 1.000 2 2019 2019