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: rs117322666
rs117322666
SLC24A2
1 9 19586969 intron variant T/G snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs117791138
rs117791138 		1 12 24965415 downstream gene variant A/G snv 2.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs11830764
rs11830764
CUX2
1 12 111077216 intron variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12145922
rs12145922
PKN2-AS1
2 1 88680551 intron variant C/A snv 0.57 0.800 1.000 1 2011 2011
dbSNP: rs12229654
rs12229654 		20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs12539316
rs12539316 		6 0.925 0.120 7 73563568 downstream gene variant A/G snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs12594627
rs12594627
CD276
1 15 73693923 intron variant G/T snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs12968116
rs12968116
ATP8B1 ; LOC100505549
2 18 57655270 missense variant C/T snv 8.2E-02 8.0E-02 0.800 1.000 1 2011 2011
dbSNP: rs13030978
rs13030978
MYO1B
1 2 191252512 intron variant C/T snv 0.24 0.800 1.000 1 2011 2011
dbSNP: rs13084607
rs13084607
ARPP21
1 3 35736301 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs13289095
rs13289095
PKN3
1 9 128704210 intron variant G/T snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs1335645
rs1335645
CEPT1 ; DRAM2
1 1 111141654 intron variant A/G;T snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs13395911
rs13395911
EFHD1
3 2 232655544 intron variant A/T snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs138871903
rs138871903 		1 14 103348238 downstream gene variant C/T snv 7.3E-04 0.700 1.000 1 2018 2018
dbSNP: rs1392428
rs1392428 		1 5 31024746 intergenic variant T/C snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs141160611
rs141160611
SYNJ2
1 6 158063872 missense variant G/C snv 4.0E-04 9.8E-05 0.700 1.000 1 2018 2018
dbSNP: rs146846403
rs146846403
JPH3
1 16 87609135 intron variant C/T snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs1495525
rs1495525
LMTK2
1 7 98196920 intron variant G/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs1650146
rs1650146
DLG5 ; DLG5-AS1
1 10 77928450 non coding transcript exon variant A/G snv 0.72 0.700 1.000 1 2018 2018
dbSNP: rs17145750
rs17145750
MLXIPL
9 0.925 0.120 7 73612048 intron variant C/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs17157266
rs17157266 		2 1.000 0.040 11 62432345 downstream gene variant T/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs17634144
rs17634144 		1 17 53014891 intergenic variant T/C snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs2006092
rs2006092
GGT1
1 22 24599701 intron variant A/G snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs2006227
rs2006227
GGT1
2 22 24599789 intron variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2053500
rs2053500 		1 3 4867756 intron variant T/C snv 9.6E-02 0.700 1.000 1 2018 2018