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: 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: rs16998073
rs16998073 		10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.800 1.000 2 2009 2018
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: rs10059884
rs10059884 		5 5 32832368 regulatory region variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10255839
rs10255839
EVX1
6 7 27249498 intron variant G/A snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs10275663
rs10275663
GRB10
2 7 50729988 intron variant G/A snv 9.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs10504249
rs10504249
LINC01602 ; LOC105375856
3 8 57876522 intron variant A/G snv 1.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs10743353
rs10743353
LINC02398
2 12 20047028 intron variant C/T snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs10930597
rs10930597 		3 2 173462117 intergenic variant C/T snv 0.14 0.700 1.000 1 2013 2013
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: rs11065979
rs11065979 		12 0.851 0.200 12 111621753 intergenic variant C/T snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs11099097
rs11099097 		6 4 80246155 intergenic variant C/T snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs11725969
rs11725969
GUCY1A1
5 4 155705436 intron variant C/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs1173771
rs1173771 		9 5 32814922 regulatory region variant A/G snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs11867410
rs11867410
APOH
3 17 66231245 intron variant T/C snv 4.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs11887188
rs11887188 		3 2 234394166 intergenic variant C/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs11953630
rs11953630 		6 5 158418394 intergenic variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1275986
rs1275986 		2 2 26689211 upstream gene variant C/A snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs1290784
rs1290784
MECOM
6 3 169379112 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13067306
rs13067306 		2 3 94524869 regulatory region variant G/A snv 0.17 0.700 1.000 1 2013 2013
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