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
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 10 2009 2019
dbSNP: rs1458038
rs1458038
10 0.925 0.120 4 80243569 intergenic variant C/T snv 0.23 0.700 1.000 9 2011 2019
dbSNP: rs880315
rs880315
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.700 1.000 9 2011 2018
dbSNP: rs13107325
rs13107325
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 7 2011 2019
dbSNP: rs1327235
rs1327235
7 20 10988382 intron variant A/G snv 0.46 0.700 1.000 7 2011 2018
dbSNP: rs13209747
rs13209747
5 6 126794309 intron variant C/G;T snv 0.36 0.700 1.000 6 2013 2018
dbSNP: rs16998073
rs16998073
10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.700 1.000 6 2009 2019
dbSNP: rs17249754
rs17249754
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.700 1.000 6 2011 2018
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 6 2011 2018
dbSNP: rs2521501
rs2521501
FES
10 0.925 0.080 15 90894158 intron variant A/C;T snv 0.700 1.000 6 2011 2018
dbSNP: rs633185
rs633185
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.700 1.000 6 2011 2018
dbSNP: rs11953630
rs11953630
6 5 158418394 intergenic variant C/A;T snv 0.700 1.000 5 2011 2018
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 5 2009 2018
dbSNP: rs35444
rs35444
6 12 115114632 intergenic variant A/G snv 0.38 0.700 1.000 5 2011 2018
dbSNP: rs751984
rs751984
4 11 61510774 3 prime UTR variant T/C snv 0.16 0.700 1.000 5 2016 2018
dbSNP: rs1173771
rs1173771
9 5 32814922 regulatory region variant A/G snv 0.65 0.700 1.000 4 2011 2018
dbSNP: rs12579720
rs12579720
2 12 20020830 intron variant C/A;G;T snv 0.700 1.000 4 2015 2018
dbSNP: rs1275988
rs1275988
6 1.000 0.080 2 26691496 upstream gene variant C/T snv 0.48 0.700 1.000 4 2017 2018
dbSNP: rs13082711
rs13082711
5 3 27496418 intergenic variant T/C snv 0.16 0.700 1.000 4 2011 2018
dbSNP: rs13139571
rs13139571
9 1.000 0.040 4 155724361 intron variant C/A snv 0.22 0.700 1.000 4 2011 2018
dbSNP: rs17080102
rs17080102
3 6 150683634 5 prime UTR variant G/C snv 8.6E-02 0.700 1.000 4 2013 2018
dbSNP: rs17367504
rs17367504
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 4 2017 2018
dbSNP: rs2004776
rs2004776
AGT
5 1 230712956 intron variant C/G;T snv 0.700 1.000 4 2017 2018
dbSNP: rs3918226
rs3918226
12 0.925 0.080 7 150993088 intron variant C/T snv 5.7E-02 0.700 1.000 4 2017 2018
dbSNP: rs419076
rs419076
6 3 169383098 intron variant T/A;C snv 0.700 1.000 4 2011 2018