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: rs121918270
rs121918270
1 1.000 0.200 11 124871062 missense variant G/A snv 0.800 1.000 1 2004 2004
dbSNP: rs121918271
rs121918271
1 1.000 0.200 11 124875145 missense variant G/A;C snv 1.1E-04 0.800 1.000 1 2004 2004
dbSNP: rs121918272
rs121918272
1 1.000 0.200 11 124875150 missense variant T/A;C snv 4.0E-06 0.800 1.000 1 2004 2004
dbSNP: rs121918274
rs121918274
3 0.882 0.200 11 124870650 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.800 1.000 1 2004 2004
dbSNP: rs121918275
rs121918275
1 1.000 0.200 11 124865591 missense variant T/C snv 0.800 1.000 1 2004 2004
dbSNP: rs121918276
rs121918276
1 1.000 0.200 11 124868837 missense variant A/C snv 0.800 1.000 1 2004 2004
dbSNP: rs121918273
rs121918273
1 1.000 0.200 11 124872919 stop gained G/T snv 0.700 0
dbSNP: rs121918278
rs121918278
1 1.000 0.200 11 124875581 stop gained C/T snv 0.700 0
dbSNP: rs1565312182
rs1565312182
1 1.000 0.200 11 124874171 frameshift variant TT/- del 0.700 0
dbSNP: rs1565312616
rs1565312616
1 1.000 0.200 11 124874910 splice donor variant G/A snv 0.700 0
dbSNP: rs775068146
rs775068146
1 1.000 0.200 11 124874122 frameshift variant CA/- delins 7.0E-06 0.700 0