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: rs1888693
rs1888693
CACNB2
1 10 18151515 intron variant G/A snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs189921337
rs189921337 		1 7 67679580 intergenic variant C/T snv 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs1973232
rs1973232
TIMP2
1 17 78860884 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2028386
rs2028386
LOXL1
2 1.000 0.040 15 73934367 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2049865
rs2049865
TRPS1
1 8 115576319 intron variant C/A snv 0.69 0.700 1.000 1 2018 2018
dbSNP: rs2056544
rs2056544
SCAPER
1 15 76533662 intron variant G/A snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs208814
rs208814
PPP1R16B
1 20 38864933 intron variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2119790
rs2119790
SCRG1 ; LOC112267917
1 4 173462088 intergenic variant C/G snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs2131755
rs2131755
CRISPLD2
1 16 84823772 intron variant A/G snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs2280028
rs2280028
LINC01082 ; LOC101928582
1 16 86199807 upstream gene variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2470653
rs2470653 		1 3 5804815 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2784255
rs2784255 		1 1 220893031 intergenic variant T/C snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs2874890
rs2874890
KCNIP4
1 4 21126053 intron variant C/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs3104841
rs3104841
TMEM26-AS1
1 10 61485227 downstream gene variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3113037
rs3113037
LOC105375411
1 7 96449252 intergenic variant C/T snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs34119918
rs34119918
ING5
1 2 241726187 3 prime UTR variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs34126945
rs34126945
SNX24
1 5 122994034 intron variant A/G snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs3762086
rs3762086
KIAA1217
1 10 24431559 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs3823878
rs3823878
ELN
1 7 74028915 intron variant G/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs428022
rs428022 		1 15 67956797 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4333882
rs4333882
SLC35F3
1 1 234217153 intron variant A/G snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs4461115
rs4461115 		1 17 47722212 regulatory region variant T/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs4515160
rs4515160
C1QTNF7 ; C1QTNF7-AS1
1 4 15382920 intron variant C/G snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs4662344
rs4662344
ARHGAP15
3 0.925 0.080 2 143591289 intron variant T/C snv 0.82 0.710 1.000 1 2017 2017
dbSNP: rs4839715
rs4839715 		1 6 97917413 intron variant G/A snv 0.27 0.700 1.000 1 2018 2018