Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894040
SHH
0.882 0.160 7 155806509 missense variant A/C;G snv 4
rs104894042
SHH
0.925 0.120 7 155803618 missense variant A/T snv 2
rs104894043
SHH
0.925 0.120 7 155803613 missense variant C/T snv 4.4E-05 5.6E-05 2
rs104894044
SHH
0.925 0.120 7 155811825 stop gained G/A snv 2
rs104894045
SHH
0.925 0.120 7 155806545 stop gained T/A snv 2
rs104894046
SHH
0.925 0.120 7 155803439 stop gained C/A;T snv 1.5E-05 2
rs104894048
SHH
0.925 0.120 7 155803019 missense variant G/C;T snv 3.7E-05 2
rs104894050
SHH
0.925 0.120 7 155811860 missense variant T/A snv 2
rs104894051
SHH
0.925 0.120 7 155803523 stop gained C/A;G snv 1.5E-05 2
rs104894052
SHH
0.925 0.160 7 155803294 missense variant A/G snv 2
rs104894053
SHH
0.925 0.160 7 155806475 stop gained C/T snv 2
rs267607047
SHH
0.925 0.120 7 155806513 missense variant G/A;T snv 4.0E-06 2
rs28936675
SHH
0.925 0.120 7 155812032 missense variant C/T snv 2
rs397515375
SHH
0.925 0.120 7 155803481 inframe deletion GCGGCGGTGAGCAGCAGGCGC/- delins 2
rs397515376
SHH
0.925 0.120 7 155803149 inframe deletion GCGCGAAGG/- delins 2
rs587778792
SHH
0.925 0.120 7 155811823 missense variant C/G snv 2
rs587778799
SHH
0.925 0.120 7 155806296 missense variant C/G snv 2
rs587778805
SHH
0.925 0.120 7 155803625 missense variant C/T snv 7.0E-06 2
rs587778806
SHH
0.925 0.120 7 155803581 missense variant G/T snv 2
rs121917879
SIX3-AS1 ; SIX3
0.925 0.120 2 44942874 missense variant G/C snv 2
rs121917880
SIX3-AS1 ; SIX3
0.925 0.120 2 44942853 missense variant T/C snv 2
rs104894047
SHH
1.000 0.120 7 155803420 missense variant C/T snv 3.3E-03 2.0E-03 1
rs1057518660
SHH
1.000 0.120 7 155803005 frameshift variant G/- delins 1
rs1347054935
SHH
1.000 0.120 7 155803595 missense variant G/C snv 8.8E-06 1.4E-05 1
rs137853341
SHH
1.000 0.120 7 155803142 missense variant C/T snv 1.4E-05 1.4E-05 1