Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137853197
NEXN
0.925 0.040 1 77942756 missense variant A/G snv 7.2E-05 1.0E-04 3
rs1561703922
DSP
6 7584830 frameshift variant ACAG/- delins 1
rs730880093
DSP
6 7583655 frameshift variant A/- del 1
rs869025399
DSP
6 7582986 frameshift variant A/- delins 1
rs727502994
DSP
6 7581565 splice donor variant -/AG delins 1
rs1554108431
DSP
0.882 0.120 6 7581189 stop gained C/T snv 4
rs727503003
DSP
1.000 0.080 6 7581012 frameshift variant -/A delins 2
rs1554108287
DSP
0.925 0.080 6 7580495 frameshift variant CACTG/- del 3
rs879255521
DSP
6 7580193 stop gained C/T snv 4.0E-06 1
rs121912997
DSP
0.925 0.160 6 7579989 stop gained C/G;T snv 3
rs1554108152
DSP
0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins 4
rs727503001
DSP
1.000 0.080 6 7579820 stop gained T/A snv 2
rs148894066
DSP
6 7579697 stop gained C/A;T snv 1.4E-04 1
rs727503000
DSP
1.000 0.080 6 7579663 frameshift variant -/A delins 2
rs1554108012
DSP
0.882 0.120 6 7579323 stop gained C/T snv 4
rs397516927
DSP
6 7577007 frameshift variant -/A delins 1
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins 4
rs727505115
DSP
6 7572069 splice donor variant G/A;C snv 1
rs727505077
DSP
6 7571432 frameshift variant A/- del 1
rs727504498
DSP
6 7570477 stop gained C/T snv 1
rs397516913
DSP
6 7567781 frameshift variant T/- delins 1
rs869025398
DSP
6 7567451 splice donor variant T/G snv 1
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 5
rs397516973
DSP
6 7565448 stop gained C/A;T snv 1.2E-05 1
rs397516956
DSP
6 7562762 frameshift variant -/A delins 1