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: rs104894711
rs104894711
2 0.925 0.080 19 41869042 missense variant C/T snv 0.800 1.000 8 1999 2008
dbSNP: rs786200936
rs786200936
1 1.000 0.080 19 41869722 missense variant G/A snv 0.800 1.000 8 1999 2008
dbSNP: rs104894717
rs104894717
1 1.000 0.080 19 41860817 missense variant G/A;T snv 8.0E-06 0.700 1.000 8 1999 2008
dbSNP: rs147508369
rs147508369
1 1.000 0.080 19 41861204 missense variant C/T snv 2.5E-04 3.8E-04 0.700 1.000 8 1999 2008
dbSNP: rs1555841301
rs1555841301
2 0.925 0.080 19 41869043 missense variant G/A snv 0.700 1.000 8 1999 2008
dbSNP: rs782329429
rs782329429
1 1.000 0.080 19 41860823 missense variant G/A;C snv 1.2E-05 0.700 1.000 8 1999 2008
dbSNP: rs104894716
rs104894716
1 1.000 0.080 19 41861138 stop gained G/A snv 0.700 0
dbSNP: rs121908649
rs121908649
1 1.000 0.080 19 41869108 stop gained A/T snv 0.700 0
dbSNP: rs1555841379
rs1555841379
1 1.000 0.080 19 41869217 splice region variant A/C snv 0.700 0
dbSNP: rs1558284033
rs1558284033
4 0.851 0.080 1 92833637 frameshift variant AACA/- delins 0.700 0
dbSNP: rs1568796003
rs1568796003
1 1.000 0.080 19 41869708 frameshift variant -/CT delins 0.700 0
dbSNP: rs61762293
rs61762293
1 1.000 0.080 19 41869138 stop gained C/T snv 0.700 0
dbSNP: rs786200935
rs786200935
1 1.000 0.080 19 41869163 frameshift variant G/- delins 0.700 0