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: rs1000708
rs1000708
SLC16A7
1 1.000 0.160 12 59689707 intron variant C/T snv 0.58 0.700 1.000 1 2019 2019
dbSNP: rs10738760
rs10738760 		7 0.807 0.320 9 2691186 regulatory region variant A/G snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs11201335
rs11201335 		1 1.000 0.160 10 85018443 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1144964
rs1144964
CPM
1 1.000 0.160 12 68944857 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11488711
rs11488711
LINC02815 ; LINC02814
1 1.000 0.160 1 229105486 intron variant C/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs114921230
rs114921230
STUM
1 1.000 0.160 1 226595161 intron variant G/A snv 3.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs115523882
rs115523882 		1 1.000 0.160 3 168158417 intergenic variant A/G snv 9.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs116396065
rs116396065 		1 1.000 0.160 8 121117030 intron variant T/A snv 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs137949823
rs137949823 		1 1.000 0.160 5 43743007 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs138683663
rs138683663 		1 1.000 0.160 18 59195550 intergenic variant C/T snv 4.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs149201869
rs149201869 		1 1.000 0.160 2 215487796 downstream gene variant T/A snv 2.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2013 2013
dbSNP: rs184340784
rs184340784 		2 0.925 0.160 1 4529823 intergenic variant C/T snv 6.1E-04 0.700 1.000 1 2019 2019
dbSNP: rs1902491
rs1902491 		2 0.925 0.240 4 155134181 intergenic variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs200295620
rs200295620 		2 0.925 0.160 3 168172398 intergenic variant T/-;TT delins 5.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs201584991
rs201584991
ZNF572
1 1.000 0.160 8 124979483 downstream gene variant ATT/- delins 2.6E-04 0.700 1.000 1 2019 2019
dbSNP: rs2064196
rs2064196 		1 1.000 0.160 6 144266047 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2292239
rs2292239
ERBB3
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs3081219
rs3081219
WDR72
1 1.000 0.160 15 53583969 intron variant GAGA/-;GA delins 0.700 1.000 1 2019 2019
dbSNP: rs3825932
rs3825932
CTSH
6 0.827 0.360 15 78943104 intron variant T/C snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs3917779
rs3917779
SELP
2 0.925 0.280 1 169601610 intron variant G/A snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs4726066
rs4726066
PRKAG2
1 1.000 0.160 7 151625186 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs4865047
rs4865047
CEP135
2 0.925 0.240 4 55955640 intron variant C/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs61811867
rs61811867
KCNN3
1 1.000 0.160 1 154802768 intron variant C/T snv 0.13 0.700 1.000 1 2019 2019