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: rs1057523354
rs1057523354
COL4A1
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs1557787212
rs1557787212 		1 1.000 0.120 1 17157671 intergenic variant G/T snv 0.700 0
dbSNP: rs1566328963
rs1566328963
SUPT20H
1 1.000 0.120 13 37047903 stop gained T/A snv 0.700 0
dbSNP: rs3766379
rs3766379
CD244
4 0.851 0.320 1 160837925 intron variant T/C snv 0.57 0.700 0
dbSNP: rs231735
rs231735 		1 1.000 0.120 2 203829153 intergenic variant G/T snv 0.55 0.810 1.000 1 2009 2009
dbSNP: rs10209110
rs10209110
AFF3
1 1.000 0.120 2 100056230 intron variant C/T snv 0.47 0.800 1.000 1 2012 2012
dbSNP: rs1043099
rs1043099
CASTOR1
1 1.000 0.120 22 30285268 3 prime UTR variant C/A;G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs10821944
rs10821944
ARID5B
3 1.000 0.120 10 62025330 3 prime UTR variant G/T snv 0.66 0.800 1.000 1 2012 2012
dbSNP: rs10892279
rs10892279 		3 1.000 0.120 11 118741072 intron variant G/A;T snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs11051970
rs11051970 		1 1.000 0.120 12 32384554 downstream gene variant G/T snv 0.33 0.800 1.000 1 2013 2013
dbSNP: rs11121380
rs11121380
SPSB1
1 1.000 0.120 1 9348900 intron variant A/C snv 0.11 0.800 1.000 1 2013 2013
dbSNP: rs11148643
rs11148643 		1 1.000 0.120 13 64317065 intergenic variant T/A;C snv 0.46 0.800 1.000 1 2011 2011
dbSNP: rs11571302
rs11571302 		2 0.925 0.200 2 203878211 downstream gene variant G/A;T snv 0.800 1.000 1 2012 2012
dbSNP: rs11673987
rs11673987
SPRED2
1 1.000 0.120 2 65370537 intron variant A/G snv 0.31 0.800 1.000 1 2012 2012
dbSNP: rs11900673
rs11900673 		1 1.000 0.120 2 62225526 downstream gene variant C/T snv 0.13 0.800 1.000 1 2012 2012
dbSNP: rs11937061
rs11937061
CCNG2
1 1.000 0.120 4 77215780 intron variant G/C;T snv 0.800 1.000 1 2013 2013
dbSNP: rs12109285
rs12109285 		1 1.000 0.120 5 21749239 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs12131057
rs12131057
LOC105378654
1 1.000 0.120 1 38158457 intron variant G/A snv 0.20 0.800 1.000 1 2010 2010
dbSNP: rs12194148
rs12194148 		2 0.925 0.160 6 32476421 upstream gene variant G/C;T snv 0.800 1.000 1 2011 2011
dbSNP: rs12379034
rs12379034
CDK5RAP2
1 1.000 0.120 9 120400388 intron variant A/G snv 0.21 0.800 1.000 1 2014 2014
dbSNP: rs12525220
rs12525220 		1 1.000 0.120 6 32707693 upstream gene variant G/A snv 5.6E-02 0.800 1.000 1 2014 2014
dbSNP: rs12529514
rs12529514 		1 1.000 0.120 6 14096427 regulatory region variant T/C snv 4.7E-02 0.800 1.000 1 2012 2012
dbSNP: rs12565755
rs12565755
LINC01748
1 1.000 0.120 1 60576203 intron variant T/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs12617656
rs12617656
DPP4
2 0.925 0.200 2 161994637 intron variant T/C snv 0.35 0.800 1.000 1 2014 2014
dbSNP: rs1273516
rs1273516
CYP4F23P
1 1.000 0.120 19 15566899 intron variant G/A;C snv 0.800 1.000 1 2013 2013