Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 49
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv 12
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv 11
rs1563005360
FLNC-AS1 ; FLNC
0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins 11
rs1554442015
TWIST1
0.851 0.120 7 19116970 missense variant G/C snv 5