Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913595
MPZ
0.742 0.160 1 161306785 missense variant G/A;T snv 10
rs121913586
MPZ
0.752 0.200 1 161306414 missense variant C/G;T snv 9
rs121913603
MPZ
0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 8
rs1553259648
MPZ
0.776 0.160 1 161306759 missense variant G/C;T snv 8
rs104894161
EGR2
0.807 0.080 10 62813563 missense variant G/A snv 4
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv 4
rs104894708
PRX
0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 4
rs121913585
MPZ
0.851 0.080 1 161307304 missense variant G/A;C snv 3
rs121913597
MPZ
0.827 0.160 1 161307268 missense variant T/A snv 3
rs121913601
MPZ
0.851 0.080 1 161307259 missense variant G/A;C snv 3
rs104894159
EGR2
0.827 0.080 10 62813413 missense variant G/A snv 2
rs104894826
GJB1
0.882 0.080 X 71224114 missense variant T/C snv 2
rs121913590
MPZ
0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06 2
rs1553259707
MPZ
0.851 0.080 1 161306911 missense variant T/C snv 2
rs281865127
MPZ
0.827 0.120 1 161306767 missense variant T/C snv 2
rs770546306
MPZ
0.882 0.080 1 161307402 missense variant G/A;C;T snv 3.2E-05; 5.2E-05 2
rs104894617
PMP22
0.851 0.080 17 15260681 missense variant A/G snv 2
rs104894622
PMP22
0.882 0.080 17 15260692 missense variant G/T snv 2
rs879253954
PMP22
0.882 0.160 17 15230951 missense variant C/A;T snv 2
rs104894707
PRX
0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 2
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 1
rs1553259568
MPZ
1.000 0.080 1 161306355 frameshift variant C/- delins 1
rs267607243
MPZ
0.925 0.080 1 161306774 missense variant C/T snv 1
rs281865121
MPZ
0.925 0.080 1 161307403 missense variant A/G snv 1
rs879253858
MPZ
0.882 0.120 1 161306753 missense variant T/G snv 1