Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs112550005
rs112550005
FBN1
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
8 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
dbSNP: rs121912856
rs121912856
COL7A1
13 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
dbSNP: rs137854466
rs137854466
FBN1
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs765243124
rs765243124
COL17A1
14 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
dbSNP: rs780261665
rs780261665
COL7A1
9 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs104894133
rs104894133
XPA
2 1.000 0.160 9 97684977 stop gained G/A snv 2.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1230361416
rs1230361416
OPA1
1 3 193614737 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1393142163
rs1393142163
CTNNA3
2 10 67521867 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1457403673
rs1457403673
KRT14
4 0.882 0.120 17 41586785 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs28929485
rs28929485
GJB2
7 0.807 0.320 13 20189532 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs760185784
rs760185784
DSC2
2 18 31089533 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs80356772
rs80356772
GBA
9 0.790 0.160 1 155235195 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2011 2011