Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs869320624
EMC1-AS1 ; EMC1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs863225082
PPP2R5D ; MEA1
0.827 0.160 6 43007265 missense variant G/A snv 7
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs56144125
TPP1
0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05 6
rs587779351
XRCC4
0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05 6
rs794726710
SCN1A ; SCN1A-AS1 ; LOC102724058
0.882 0.160 2 166013812 stop gained G/A snv 4
rs1275489527
MYT1L
0.882 0.120 2 1917238 missense variant C/T snv 1