Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113994198
PAFAH1B1
0.925 0.080 17 2666053 frameshift variant A/-;AA delins 4
rs797045865
PAFAH1B1
0.925 0.080 17 2674088 frameshift variant GA/- delins 3
rs121434484
PAFAH1B1
0.925 0.080 17 2670268 missense variant T/C snv 2
rs121434488
PAFAH1B1
0.925 0.080 17 2674110 missense variant G/A;C snv 4.0E-06 2
rs121434489
PAFAH1B1
0.925 0.080 17 2638310 stop gained C/T snv 2
rs1057520515
PAFAH1B1
1.000 0.080 17 2680321 splice donor variant G/A snv 1
rs113994200
PAFAH1B1
1.000 0.080 17 2680206 frameshift variant G/-;GG delins 1
rs113994202
PAFAH1B1
1.000 0.080 17 2672645 intron variant T/C snv 1
rs113994203
PAFAH1B1
1.000 0.080 17 2676607 splice donor variant G/A snv 1
rs121434482
PAFAH1B1
1.000 0.080 17 2670209 missense variant A/G snv 1
rs121434483
PAFAH1B1
1.000 0.080 17 2674205 stop gained C/T snv 1
rs121434485
PAFAH1B1
1.000 0.080 17 2676553 missense variant G/C snv 1
rs121434486
PAFAH1B1
1.000 0.080 17 2665431 missense variant T/C snv 1
rs121434487
PAFAH1B1
1.000 0.080 17 2670247 missense variant G/A snv 1
rs121434490
PAFAH1B1
1.000 0.080 17 2674218 missense variant A/C snv 1
rs1555526309
PAFAH1B1
1.000 0.080 17 2666074 frameshift variant T/- delins 1
rs1555526718
PAFAH1B1
1.000 0.080 17 2670276 frameshift variant -/A delins 1
rs1555526733
PAFAH1B1
1.000 0.080 17 2670332 splice donor variant G/A snv 1
rs1555527149
PAFAH1B1
1.000 0.080 17 2674287 missense variant A/G snv 1
rs1555527743
PAFAH1B1
1.000 0.080 17 2680132 splice acceptor variant ACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTT/- delins 1
rs1567559851
PAFAH1B1
1.000 0.080 17 2674240 stop gained G/A snv 1
rs1567561137
PAFAH1B1
1.000 0.080 17 2676592 splice donor variant CTTATGACCCTCGTAAGTTTGC/- delins 1
rs200390886
PAFAH1B1
1.000 0.080 17 2670266 missense variant G/A;C snv 1
rs369259961
PAFAH1B1
1.000 0.080 17 2665423 stop gained T/C;G snv 4.0E-06 1
rs587784235
PAFAH1B1
1.000 0.080 17 2676611 splice region variant G/A snv 1