Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs777601008 1.000 0.080 16 70268366 missense variant G/A snv 7.0E-06 1
rs387906792 1.000 0.080 16 70277088 missense variant T/A snv 1
rs1555542415 1.000 0.080 16 70276971 missense variant A/G snv 1
rs786205157 1.000 16 70277057 missense variant T/G snv 7.0E-06 1
rs1555539157 1.000 16 70252755 missense variant A/G snv 1
rs138119149 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 9
rs587777589 0.851 0.280 6 44311095 frameshift variant -/C delins 7
rs368934219 1.000 6 44303177 splice acceptor variant T/C snv 1.6E-05 1.4E-05 2
rs146512155 1.000 6 44305099 missense variant C/G;T snv 2.8E-04; 3.2E-05 1
rs387907061 1.000 6 44311507 missense variant A/C snv 1.2E-05 1.4E-05 1
rs587777592 1.000 6 44306367 missense variant C/T snv 1.6E-05 7.0E-06 1
rs587777590 1.000 6 44313175 missense variant A/C snv 1
rs543267101 1.000 6 44300612 missense variant C/T snv 4.0E-05 4.2E-05 1
rs587777121 1.000 0.120 7 122077833 splice donor variant CTTAC/AA delins 1
rs587777126 1.000 0.120 7 122113140 missense variant A/C snv 4.0E-06 1
rs587777123 1.000 0.120 7 122115140 frameshift variant TG/- del 4.0E-06 1
rs587777122 1.000 0.120 7 122116653 missense variant T/C snv 1.2E-05 1
rs587777124 1.000 0.120 7 122091794 stop gained G/C snv 1
rs587777125 1.000 0.120 7 122133533 missense variant C/T snv 1.2E-05 7.0E-06 1
rs387906333 1.000 0.120 7 122098496 stop gained CTTGTTTAC/- del 1
rs121434578 1.000 0.080 16 8768248 missense variant G/A snv 5
rs724159990 1.000 0.080 16 8768220 missense variant C/T snv 5
rs724159992 1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05 5
rs1567310537 1.000 0.080 16 8764744 missense variant C/T snv 1
rs1567300736 1.000 0.080 16 8746099 splice donor variant G/A snv 1