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: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 3 2009 2013
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: rs16998073
rs16998073 		10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.800 1.000 2 2009 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: rs11024074
rs11024074
PLEKHA7
5 0.925 0.040 11 16895672 intron variant T/C snv 0.29 0.700 1.000 1 2009 2009
dbSNP: rs1530440
rs1530440
CABCOCO1
6 1.000 0.040 10 61764833 intron variant C/T snv 0.15 0.700 1.000 1 2009 2009
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: rs1918974
rs1918974
MECOM ; MECOM-AS1
3 1.000 0.040 3 169448100 intron variant C/T snv 0.57 0.700 1.000 1 2009 2009
dbSNP: rs2384550
rs2384550 		5 1.000 0.040 12 114914926 regulatory region variant G/A snv 0.33 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: 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: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2009 2009
dbSNP: rs6544619
rs6544619
LOC112268413
1 2 42957589 intergenic variant C/T snv 0.52 0.700 1.000 1 2009 2009
dbSNP: rs9815354
rs9815354
ULK4
4 0.925 0.160 3 41871159 intron variant G/A;T snv 0.700 1.000 1 2009 2009
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: rs1173771
rs1173771 		9 5 32814922 regulatory region variant A/G snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs11953630
rs11953630 		6 5 158418394 intergenic variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs13082711
rs13082711 		5 3 27496418 intergenic variant T/C snv 0.16 0.700 1.000 1 2011 2011
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: rs1327235
rs1327235 		7 20 10988382 intron variant A/G snv 0.46 0.700 1.000 1 2011 2011
dbSNP: rs1458038
rs1458038 		10 0.925 0.120 4 80243569 intergenic variant C/T snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2011 2011
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: rs419076
rs419076
MECOM
6 3 169383098 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs4373814
rs4373814 		5 10 18131043 intergenic variant G/C;T snv 0.700 1.000 1 2011 2011