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
rs1468358104
FLVCR1 ; FLVCR1-DT
1 212858454 start lost T/C snv 3.7E-05 3
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins 3
rs1064796453
CTNNB1
3 41235799 stop gained C/A;T snv 2
rs1213060424
DLG3
X 70449787 stop gained C/A;T snv 2
rs143657539
PPT1
1 40092054 missense variant C/T snv 4.0E-06 1.4E-05 2
rs1553153365
HNRNPR
1 23310702 stop gained G/A snv 2
rs1553252938
EMC1 ; EMC1-AS1
1 19232655 missense variant G/T snv 2
rs1553732126
ADCY5
3 123347875 frameshift variant -/G delins 2
rs1554100923
GABRG2
5 162149212 missense variant T/C snv 2
rs1554121353
SYNGAP1 ; MIR5004
6 33438527 frameshift variant A/- del 2
rs1554122458
SYNGAP1
6 33444450 frameshift variant -/A delins 2
rs1554129113
PURA
5 140114873 missense variant T/C snv 2
rs1554777375
STXBP1
9 127665304 frameshift variant -/A delins 2
rs1554778941
STXBP1
9 127682485 frameshift variant G/- delins 2
rs1554931219
BDNF ; BDNF-AS
11 27658063 stop gained C/A snv 2
rs1555162303
TUBA1A
12 49185311 missense variant T/A snv 2
rs1555230924
SCN8A
12 51806351 missense variant C/A snv 2
rs1555303010
COL4A1
13 110176450 missense variant C/T snv 2
rs1555349184
NKX2-1-AS1 ; SFTA3 ; NKX2-1
14 36517659 frameshift variant GCACCCGG/- delins 2
rs1555494259
STX1B
16 30996983 missense variant C/A snv 2
rs1555605688
CLTC
17 59668852 missense variant C/T snv 2
rs1555801872
RYR1
19 38572152 inframe insertion -/ATGGTGTACTACTTC delins 2
rs1555907034
OFD1
X 13760532 frameshift variant T/- delins 2
rs1555912049
PTCHD1
X 23379829 frameshift variant TGCACAGCAAAGAC/- del 2