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: rs1057518863
rs1057518863
COL7A1
4 0.925 0.120 3 48567190 missense variant C/A;T snv 0.700 0
dbSNP: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
dbSNP: rs1563183492
rs1563183492
AUTS2
32 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs199821421
rs199821421
CREBBP
6 0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 0.700 0
dbSNP: rs753317536
rs753317536
EVC
12 0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs767978562
rs767978562
FREM2
8 0.790 0.320 13 38851093 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs778139192
rs778139192
TICRR ; KIF7
14 0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 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: rs886037856
rs886037856
BHLHA9
4 0.882 0.080 17 1270783 missense variant GA/TT mnv 0.700 0