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: rs5883070
rs5883070 		5 7 27240226 intron variant -/AAAACA;AACA delins 0.91 0.700 1.000 1 2018 2018
dbSNP: rs6495122
rs6495122 		6 1.000 0.040 15 74833304 downstream gene variant A/C snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs2521501
rs2521501
FES
10 0.925 0.080 15 90894158 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10504249
rs10504249
LINC01602 ; LOC105375856
3 8 57876522 intron variant A/G snv 1.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs1173771
rs1173771 		9 5 32814922 regulatory region variant A/G snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs1327235
rs1327235 		7 20 10988382 intron variant A/G snv 0.46 0.700 1.000 1 2011 2011
dbSNP: rs16948048
rs16948048
ZNF652 ; LOC102724596
8 0.925 0.040 17 49363104 intron variant A/G snv 0.37 0.700 1.000 1 2009 2009
dbSNP: rs2681472
rs2681472
ATP2B1
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs3792765
rs3792765
NPR3
2 5 32713730 intron variant A/G snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs4601790
rs4601790
EHBP1L1
4 11 65586435 intron variant A/G snv 0.23 0.700 1.000 1 2014 2014
dbSNP: rs6015450
rs6015450
ZNF831
7 20 59176062 intron variant A/G snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs7286472
rs7286472 		2 22 33990484 intergenic variant A/G snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs932764
rs932764
PLCE1
6 10 94136183 intron variant A/G snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs16998073
rs16998073 		10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.800 1.000 2 2009 2018
dbSNP: rs7953257
rs7953257
HECTD4
5 12 112246417 intron variant A/G;T snv 0.71 0.700 1.000 1 2018 2018
dbSNP: rs11014166
rs11014166
CACNB2
10 0.882 0.040 10 18419869 intron variant A/T snv 0.27 0.700 1.000 1 2009 2009
dbSNP: rs438885
rs438885 		5 2 164195781 intron variant A/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs13139571
rs13139571
GUCY1A1 ; LOC107984032
9 1.000 0.040 4 155724361 intron variant C/A snv 0.22 0.800 1.000 2 2011 2018
dbSNP: rs1275986
rs1275986 		2 2 26689211 upstream gene variant C/A snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 2 2009 2011
dbSNP: rs10059884
rs10059884 		5 5 32832368 regulatory region variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11953630
rs11953630 		6 5 158418394 intergenic variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1290784
rs1290784
MECOM
6 3 169379112 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2011 2011
dbSNP: rs7137828
rs7137828
ATXN2
15 0.763 0.200 12 111494996 intron variant C/A;T snv 0.700 1.000 1 2018 2018