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: rs121918005
rs121918005
2 0.925 0.080 1 21560662 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 20 1992 2013
dbSNP: rs770093969
rs770093969
1 1.000 0.080 1 21560683 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 20 1992 2013
dbSNP: rs1470389268
rs1470389268
1 1.000 0.080 1 21560716 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121918001
rs121918001
3 0.882 0.080 1 21561126 missense variant C/A;T snv 0.700 1.000 20 1992 2013
dbSNP: rs121918003
rs121918003
2 0.925 0.080 1 21561127 missense variant G/A;C snv 4.0E-06; 1.2E-05 0.700 1.000 20 1992 2013
dbSNP: rs1304394441
rs1304394441
1 1.000 0.080 1 21561138 missense variant G/A snv 0.700 1.000 20 1992 2013
dbSNP: rs1057521085
rs1057521085
1 1.000 0.080 1 21561142 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs121918015
rs121918015
3 0.882 0.160 1 21563135 missense variant C/T snv 0.700 1.000 20 1992 2013
dbSNP: rs773257111
rs773257111
1 1.000 0.080 1 21563143 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 20 1992 2013
dbSNP: rs762915678
rs762915678
3 0.882 0.120 1 21563153 missense variant C/T snv 4.0E-06 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs121918013
rs121918013
5 0.827 0.120 1 21563158 missense variant G/A snv 0.800 1.000 20 1992 2013
dbSNP: rs954135116
rs954135116
1 1.000 0.080 1 21563170 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1159854007
rs1159854007
1 1.000 0.080 1 21563194 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs786204530
rs786204530
4 0.851 0.160 1 21563212 missense variant AC/CA mnv 0.800 1.000 20 1992 2013
dbSNP: rs780583917
rs780583917
1 1.000 0.080 1 21563213 missense variant C/A snv 5.2E-05 6.3E-05 0.700 0
dbSNP: rs121918011
rs121918011
4 0.851 0.080 1 21563219 missense variant G/A;C snv 1.4E-04 0.800 1.000 20 1992 2013
dbSNP: rs1376937780
rs1376937780
1 1.000 0.080 1 21563255 missense variant C/T snv 0.700 0
dbSNP: rs149344982
rs149344982
1 1.000 0.080 1 21563267 missense variant G/A snv 1.2E-02 8.6E-03 0.700 1.000 20 1992 2013
dbSNP: rs760029254
rs760029254
1 1.000 0.080 1 21564052 missense variant G/A snv 1.6E-05 0.700 1.000 20 1992 2013
dbSNP: rs121918012
rs121918012
1 1.000 0.080 1 21564053 missense variant G/T snv 0.700 1.000 20 1992 2013
dbSNP: rs778232217
rs778232217
1 1.000 0.080 1 21564080 missense variant A/G snv 8.0E-06 0.700 1.000 20 1992 2013
dbSNP: rs121918019
rs121918019
3 0.882 0.080 1 21564094 missense variant G/A;C snv 9.2E-05 0.800 1.000 20 1992 2013
dbSNP: rs199669988
rs199669988
3 0.882 0.080 1 21564097 missense variant G/A snv 1.3E-04 3.5E-05 0.700 0
dbSNP: rs121918000
rs121918000
2 0.925 0.080 1 21564103 missense variant G/A snv 1.2E-05 0.700 1.000 20 1992 2013
dbSNP: rs199590449
rs199590449
2 0.925 0.080 1 21564110 missense variant C/T snv 4.0E-05 7.0E-06 0.700 1.000 20 1992 2013