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: rs140467171
rs140467171
1 1.000 12 57500337 missense variant T/C snv 3.2E-05 7.0E-06 0.800 1.000 2 2013 2015
dbSNP: rs756021768
rs756021768
2 0.925 0.040 12 57512811 missense variant A/G;T snv 4.0E-06 0.800 1.000 2 2013 2015
dbSNP: rs766466297
rs766466297
1 1.000 12 57498563 missense variant A/G snv 8.0E-06 0.800 1.000 2 2013 2015
dbSNP: rs201555303
rs201555303
1 1.000 12 57512036 missense variant T/C snv 6.8E-05 2.8E-05 0.800 0
dbSNP: rs143592405
rs143592405
1 1.000 12 57512300 stop gained C/A;T snv 1.6E-05 0.700 1.000 2 2013 2015
dbSNP: rs141340466
rs141340466
1 1.000 12 57500406 missense variant G/A snv 1.9E-04 1.0E-04 0.700 0
dbSNP: rs1553549333
rs1553549333
2 0.925 0.040 2 222600060 frameshift variant G/TT delins 0.700 0
dbSNP: rs753710639
rs753710639
2 0.925 0.040 2 222631623 missense variant G/A snv 4.0E-05 2.8E-05 0.700 0
dbSNP: rs758523839
rs758523839
1 1.000 12 57498452 missense variant A/G snv 8.0E-06 7.0E-06 0.700 0