Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894299
RAPSN
0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 6
rs751889864
LOC107987115 ; MUSK
0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05 5
rs606231128
DOK7
0.882 0.120 4 3493106 frameshift variant -/TGCC delins 4
rs551423795
MUSK
0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05 4
rs786200905
RAPSN
0.882 0.120 11 47449174 upstream gene variant T/C snv 2.1E-05 3
rs1560224831
DOK7
0.925 0.120 4 3489765 frameshift variant -/TCTC delins 2
rs606231129
DOK7
0.925 0.120 4 3493243 frameshift variant C/-;CC delins 2
rs606231131
DOK7
0.925 0.120 4 3493316 frameshift variant -/CTGG delins 2
rs606231133
DOK7
0.925 0.120 4 3493359 frameshift variant C/-;CC delins 2
rs761899995
DOK7
0.925 0.120 4 3493119 frameshift variant -/G delins 2
rs794727884
DOK7
0.925 0.120 4 3492938 frameshift variant CCC/-;CC;CCCC delins 2
rs768892432
DOK7 ; LOC105374355
0.925 0.120 4 3476524 missense variant G/A snv 8.0E-06 2
rs770987150
LOC105374355 ; DOK7
0.925 0.120 4 3476447 missense variant C/T snv 2.4E-05 2.8E-05 2
rs121909254
RAPSN
0.925 0.080 11 47448832 missense variant C/A;G;T snv 4.0E-06; 3.6E-05 2
rs121909255
RAPSN
0.925 0.080 11 47447859 missense variant C/T snv 2.4E-05 1.4E-05 2
rs1479498379
RAPSN
0.925 0.080 11 47447973 stop gained G/A snv 4.0E-06 2
rs1555142603
RAPSN
0.925 0.080 11 47441670 stop gained G/A snv 2
rs1259002559
SLC5A7
0.925 0.120 2 108006095 missense variant C/T snv 4.0E-06 2
rs1554757237
MUSK
1.000 0.080 9 110800735 stop gained G/A snv 1
rs863223335
MUSK
1.000 0.080 9 110668943 frameshift variant -/A delins 1
rs1179002973
PDHA1
1.000 0.080 X 19354536 missense variant A/G snv 1