Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs2229094
LOC100287329 ; LTA
0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 17
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv 11
rs142285818
RHO
0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 11
rs80358284
PRSS23 ; FZD4
0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 10
rs1423415130
XYLT2
0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 6
rs372029024
COL1A1
1.000 0.040 17 50188110 missense variant C/A;T snv 2.0E-05 1
rs1555976049
NDP-AS1 ; NDP
1.000 0.040 X 43949889 frameshift variant -/TTCA delins 1