Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 28
rs6471
CYP21A2
0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 24
rs121912532
STON1-GTF2A1L ; LHCGR ; GTF2A1L
0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 12
rs141138948
EXOSC3
0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 9
rs281875196
SMARCA2
0.851 0.320 9 2115927 missense variant G/A;C snv 9
rs768638173
NF1
0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05 6
rs281875322
SMAD4
0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 6
rs768713502
AMH ; MIR4321
0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05 5
rs121912526
STON1-GTF2A1L ; LHCGR ; GTF2A1L
0.882 0.040 2 48688604 missense variant A/G snv 4
rs746394859
CD44
0.882 0.120 11 35229182 missense variant A/G snv 4.0E-06 3
rs121912540
GTF2A1L ; LHCGR ; STON1-GTF2A1L
0.882 0.040 2 48688106 missense variant T/C snv 3
rs314280
LIN28B
0.925 0.040 6 104952962 intron variant A/G snv 0.46 3
rs121912534
STON1-GTF2A1L ; GTF2A1L ; LHCGR
0.882 0.040 2 48688094 missense variant G/A;T snv 3
rs2090409
LINC01505
1.000 0.040 9 106204807 intron variant C/A;T snv 2
rs375705600
MKRN3
0.925 0.040 15 23566816 missense variant G/A snv 2.0E-05 2.8E-05 2
rs6576457
MKRN3
1.000 0.040 15 23564729 upstream gene variant G/A snv 0.27 2
rs12441827
MKRN3
1.000 0.040 15 23564574 upstream gene variant T/C snv 0.22 1