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: rs142161979
rs142161979
ANKS1B
2 1.000 0.080 12 99392036 intron variant G/C snv 3.5E-03 0.700 1.000 1 2018 2018
dbSNP: rs1887704
rs1887704
UBAC2
2 0.925 0.080 13 99322238 intron variant C/G snv 0.55 0.700 1.000 2 2019 2019
dbSNP: rs12570188
rs12570188
HPSE2
1 1.000 0.080 10 99095945 intron variant C/T snv 1.5E-02 0.800 1.000 1 2013 2013
dbSNP: rs11021111
rs11021111 		1 1.000 0.080 11 95270099 intergenic variant C/G snv 4.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs9590225
rs9590225
ABCC4
1 1.000 0.080 13 95263947 intron variant C/T snv 1.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs67551275
rs67551275
SPSB1
2 0.925 0.080 1 9296617 intron variant T/C snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs113092121
rs113092121
KIF11
2 0.925 0.080 10 92624756 intron variant -/CTCT delins 0.700 1.000 1 2019 2019
dbSNP: rs16882243
rs16882243
SEMA5A
1 1.000 0.080 5 9226328 intron variant C/G snv 1.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs1321859
rs1321859
LOC105377891
2 0.925 0.080 6 90301954 intron variant C/T snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs62408233
rs62408233
BACH2
2 0.925 0.080 6 90266890 intron variant G/A snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs1612986
rs1612986 		3 0.925 0.080 10 9022753 intergenic variant T/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs1775554
rs1775554 		3 0.882 0.080 10 9012377 intergenic variant A/C snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs12413578
rs12413578 		4 0.882 0.160 10 9007290 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs13090972
rs13090972 		2 1.000 0.080 3 89027746 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2918302
rs2918302
LINC01862 ; LOC107983991
2 0.925 0.080 19 8675909 intron variant G/A snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs17144046
rs17144046 		4 0.882 0.120 10 8564051 intergenic variant A/G snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs7894791
rs7894791 		2 1.000 0.080 10 8549406 intergenic variant C/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs993312
rs993312
SEMA3D
1 1.000 0.080 7 85118528 intron variant C/A snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs993226
rs993226
LOC105369875
4 0.851 0.160 12 84492794 intergenic variant T/G snv 6.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs3856439
rs3856439
LINC00299
3 0.925 0.080 2 8319274 intron variant C/A;T snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs13416555
rs13416555
LINC00299
3 1.000 0.080 2 8301605 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2221641
rs2221641 		2 0.925 0.080 8 80382467 intron variant C/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs4739738
rs4739738 		3 0.882 0.120 8 80379410 intron variant G/A snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs2378383
rs2378383 		1 1.000 0.080 9 79424447 intergenic variant A/C;G;T snv 0.810 1.000 1 2009 2009
dbSNP: rs7045156
rs7045156 		1 1.000 0.080 9 79311350 intergenic variant T/C snv 3.6E-02 0.700 1.000 1 2013 2013