Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200245469 0.925 0.080 1 17022724 missense variant G/A;C snv 4.0E-06 4
rs398123690 0.925 0.080 1 17044849 frameshift variant G/-;GGG delins 4
rs587782617 0.925 0.080 1 17023999 frameshift variant ATTTGTCTCC/- del 4
rs751000085 0.882 0.080 1 17028680 stop gained G/A;C snv 8.0E-06 4
rs762812025 0.882 0.080 1 17022689 frameshift variant CT/- delins 4.0E-06 4
rs786201316 0.925 0.080 1 17028712 frameshift variant T/CC delins 4
rs786202100 0.925 0.080 1 17044791 frameshift variant GAGGT/- delins 4
rs786203251 0.882 0.080 1 17022649 missense variant G/A;T snv 4
rs786203506 0.925 0.080 1 17028649 stop gained G/A;C;T snv 4
rs794728947 0.925 0.080 1 17033135 frameshift variant -/G delins 4.0E-06 4
rs878854575 0.882 0.080 1 17033075 stop gained T/A snv 4
rs1060503752 0.925 0.080 1 17023994 frameshift variant CA/- del 3
rs1060503753 0.925 0.080 1 17027790 stop gained T/A snv 3
rs1060503759 0.925 0.080 1 17024013 stop gained C/T snv 3
rs1060503762 0.925 0.080 1 17044820 stop gained C/T snv 3
rs1060503763 0.925 0.080 1 17027848 stop gained A/C snv 3
rs1209914140 0.925 0.080 1 17022687 frameshift variant -/CGCCTCTGTGAAG delins 4.0E-06 3
rs1553176976 0.925 0.080 1 17018936 frameshift variant -/AGCT delins 3
rs1553176979 0.925 0.080 1 17018938 frameshift variant -/C ins 3
rs1553177436 0.925 0.080 1 17024007 frameshift variant C/- delins 3
rs1553177676 0.925 0.080 1 17027784 stop gained G/A snv 3
rs1553177678 0.925 0.080 1 17027798 frameshift variant T/- del 3
rs1553178726 0.925 0.080 1 17044756 splice region variant C/G snv 3
rs1557738304 0.925 0.080 1 17018943 frameshift variant -/C delins 3
rs1557739966 0.925 0.080 1 17024017 missense variant A/G snv 3