Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv 9
rs397516915
DSP
0.925 0.080 6 7568443 stop gained C/T snv 4.0E-06 6
rs794728137
DSP
0.807 0.120 6 7565507 frameshift variant -/G delins 6
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 5
rs1057518920
DSP
0.925 0.080 6 7575386 stop gained C/A snv 5
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06 4
rs1554108152
DSP
0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins 4
rs1554108431
DSP
0.882 0.120 6 7581189 stop gained C/T snv 4
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins 4
rs1554108012
DSP
0.882 0.120 6 7579323 stop gained C/T snv 4
rs121912997
DSP
0.925 0.160 6 7579989 stop gained C/G;T snv 3
rs1554108287
DSP
0.925 0.080 6 7580495 frameshift variant CACTG/- del 3
rs730880082
DSP
0.882 0.120 6 7576986 stop gained C/G;T snv 3
rs1057517903
DSP
0.882 0.120 6 7575294 splice acceptor variant G/C snv 3
rs397516940
DSP
0.882 0.120 6 7580721 stop gained C/T snv 2.0E-05 7.0E-06 3
rs876657638
DSP
0.882 0.120 6 7571554 stop gained C/T snv 3
rs140474226
DSP
0.882 0.120 6 7580370 stop gained C/T snv 3
rs1554108410
DSP
0.882 0.120 6 7581072 frameshift variant AGGAG/TTCT delins 3
rs28763965
DSP
0.925 0.120 6 7580562 stop gained C/A;G;T snv 8.0E-06; 1.7E-03; 4.0E-06 3
rs1561698362
DSP
0.925 0.120 6 7580225 frameshift variant ATGAA/- delins 3
rs1236464864
DSP
0.882 0.120 6 7580585 stop gained T/C;G snv 1.4E-05 3
rs1554108477
DSP
0.882 0.120 6 7581459 stop gained C/T snv 3
rs746877365
DSP
0.882 0.160 6 7579527 stop gained C/G;T snv 4.0E-06 3
rs121912998
DSP ; LOC101928076
1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03 3
rs727503003
DSP
1.000 0.080 6 7581012 frameshift variant -/A delins 2