Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs765243124
COL17A1
0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 14
rs121912856
COL7A1
0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 13
rs780261665
COL7A1
0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 9
rs1218912272
FLG-AS1 ; FLG
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 8
rs80356772
GBA
0.790 0.160 1 155235195 missense variant C/T snv 8.0E-06 7.0E-06 5
rs2066844
NOD2
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 3
rs28929485
GJB2
0.807 0.320 13 20189532 missense variant G/A;C snv 1
rs104894133
XPA
1.000 0.160 9 97684977 stop gained G/A snv 2.4E-05 1