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: rs10034228
rs10034228 		3 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 0.020 1.000 2 2012 2019
dbSNP: rs524952
rs524952 		6 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 0.710 1.000 2 2016 2019
dbSNP: rs634990
rs634990 		6 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 0.020 1.000 2 2012 2018
dbSNP: rs10089517
rs10089517 		2 0.925 0.040 8 59266162 intergenic variant C/A snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs10113215
rs10113215 		1 1.000 0.040 8 59219635 intergenic variant A/G snv 0.33 0.700 1.000 1 2014 2014
dbSNP: rs10512441
rs10512441 		1 1.000 0.040 17 32912627 regulatory region variant C/T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs10936538
rs10936538 		1 1.000 0.040 3 167439281 downstream gene variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11658305
rs11658305 		1 1.000 0.040 17 7526004 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1370156
rs1370156 		1 1.000 0.040 15 34692682 intergenic variant G/C snv 0.67 0.700 1.000 1 2014 2014
dbSNP: rs1556867
rs1556867 		1 1.000 0.040 1 164244449 intergenic variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs1585471
rs1585471 		1 1.000 0.040 4 111781479 regulatory region variant A/G snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs2218817
rs2218817 		1 1.000 0.040 4 111689850 regulatory region variant G/A snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs4373767
rs4373767 		4 0.882 0.040 1 219586340 regulatory region variant C/T snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs61049169
rs61049169 		1 1.000 0.040 2 146131140 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs6837348
rs6837348 		1 1.000 0.040 4 111787647 intergenic variant G/A snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs73157695
rs73157695 		1 1.000 0.040 21 45952033 intergenic variant G/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs9585327
rs9585327 		1 1.000 0.040 13 100037100 intergenic variant G/A snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs10511652
rs10511652
ADAMTSL1 ; LOC107986990
1 1.000 0.040 9 18362867 intron variant A/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs864321670
rs864321670
ALDH18A1
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
dbSNP: rs8027411
rs8027411
ANKRD34C-AS1
4 0.882 0.040 15 79168687 intron variant G/T snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs7162310
rs7162310
APH1B
1 1.000 0.040 15 63279035 intron variant C/T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs387907141
rs387907141
ARID1B
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
11 0.851 0.360 6 157181155 frameshift variant AA/- delins 0.700 0
dbSNP: rs4948523
rs4948523
BICC1
1 1.000 0.040 10 58579338 intron variant A/C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs5022942
rs5022942
BMP3
1 1.000 0.040 4 81038812 intron variant A/G snv 0.59 0.700 1.000 1 2016 2016