Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113019349
TPP1
0.925 0.120 11 6616004 splice donor variant C/G;T snv 2
rs119455954
TPP1
0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05 2
rs121908199
TPP1
0.925 0.120 11 6615542 missense variant C/T snv 2
rs121908200
TPP1
0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05 2
rs121908202
TPP1
0.925 0.120 11 6615172 missense variant G/A snv 2.4E-05 2
rs121908209
TPP1
0.925 0.120 11 6617045 missense variant C/G;T snv 4.0E-06; 4.0E-06 2
rs1554902052
TPP1
0.925 0.120 11 6617430 splice acceptor variant T/C snv 2
rs1554902216
TPP1
0.925 0.120 11 6618820 frameshift variant AG/- delins 2
rs202189057
TPP1
0.925 0.120 11 6617695 stop gained A/T snv 4.0E-06 2
rs398122959
TPP1
0.925 0.120 11 6615199 missense variant A/C snv 4.0E-06 1.4E-05 2
rs750428882
TPP1
1.000 0.120 11 6616375 missense variant G/A;C snv 4.0E-06 2
rs763162812
TPP1
0.925 0.120 11 6616720 missense variant T/A snv 1.6E-05 2.8E-05 2
rs765380155
TPP1
0.925 0.120 11 6616374 missense variant C/T snv 4.0E-06 1.4E-05 2
rs786204753
TPP1
0.925 0.120 11 6615217 stop gained C/T snv 2
rs1267314028
CLN3
1.000 0.120 16 28486388 synonymous variant G/A snv 1
rs762896453
CLN3
1.000 0.120 16 28482353 synonymous variant G/A snv 4.0E-06 1
rs1555273881
CLN5 ; FBXL3
1.000 0.120 13 76995075 frameshift variant C/- delins 1
rs796052407
CTSD
1.000 0.120 11 1759569 missense variant G/A snv 4.0E-06 4.2E-05 1
rs1555273604
FBXL3 ; CLN5
1.000 0.120 13 76992207 frameshift variant -/ATCCGGGCTGG delins 1
rs794729218
FBXL3 ; CLN5
1.000 0.120 13 76995933 frameshift variant G/- del 1
rs1060502179
TPP1
1.000 0.120 11 6618823 missense variant A/C snv 7.0E-06 1
rs1564855860
TPP1
1.000 0.120 11 6617769 stop gained G/C snv 1
rs746085696
TPP1
1.000 0.120 11 6619191 splice region variant C/G;T snv 4.0E-06 1
rs759080581
TPP1
1.000 0.120 11 6618809 stop gained G/A;T snv 1.2E-05; 4.0E-06 1