Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1350201776
ZNF335
20 45952244 missense variant C/T snv 4.0E-06 3
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins 3
rs111033284
MYO7A
11 77156991 missense variant G/A snv 1.6E-05 7.0E-06 2
rs1553153365
HNRNPR
1 23310702 stop gained G/A snv 2
rs1553182964
NFIA
1 61404170 frameshift variant ACTT/- delins 2
rs1553268563
USH2A
1 215845823 coding sequence variant C/- delins 2
rs1553631783
CTNNB1
3 41233416 frameshift variant G/- delins 2
rs1554121353
SYNGAP1 ; MIR5004
6 33438527 frameshift variant A/- del 2
rs1554336981
SAMD9
7 93103178 missense variant C/T snv 2
rs1555047506
KMT2A
11 118505003 frameshift variant GTTT/- delins 2
rs1555625571
TUBB3
16 89934974 missense variant G/C snv 2
rs375053470
DNAH5
5 13794031 stop gained G/A snv 1.6E-05; 4.0E-06 1.4E-05 2
rs397517065
ACTC1 ; LOC101928174
15 34792471 missense variant G/A snv 2
rs878853048
HDAC8
X 72567910 missense variant C/G snv 2
rs1064794957
STAT3
17 42317182 missense variant G/A;C snv 1
rs1340611668
HHAT
1 210348976 start lost A/G;T snv 7.0E-06 1
rs1348892740
NOTCH1
9 136523954 stop gained G/A snv 6.2E-06 1
rs1442840881
VPS33B
15 91006391 frameshift variant -/G delins 4.0E-06 2.1E-05 1
rs1553173425
DVL1
1 1338112 frameshift variant G/- delins 1
rs1553275644
RAB3GAP2
1 220182355 splice acceptor variant C/T snv 1
rs1553284965
RPL5 ; DIPK1A
1 92833459 splice donor variant G/A snv 1
rs1553327954
SOX11
2 5693512 stop gained C/A snv 1
rs1553477189
GLI2
2 120982843 frameshift variant -/C delins 1
rs1553485330
TTN-AS1 ; TTN
2 178531129 frameshift variant C/- delins 1
rs1553535063
NDUFB3
2 201085517 frameshift variant T/- delins 1