Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs1553794464
ZBTB20-AS1 ; ZBTB20
1.000 3 114350821 frameshift variant -/C delins 2
rs34927195
NLGN3
1.000 X 71147958 frameshift variant -/G delins 2
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs1555186842
KMT2D
1.000 12 49030285 frameshift variant -/GTGCCCTT delins 2
rs1555801973
MKKS
20 10412669 frameshift variant -/T delins 1
rs886039908
GPC3
0.925 0.360 X 133536175 frameshift variant A/- delins 5
rs1060500126
PTEN
0.790 0.160 10 87933223 missense variant A/C;G snv 8
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 19
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv 4
rs869025411
FBN1
0.925 0.160 15 48432911 missense variant A/G snv 4
rs1556235119
UBE2A
1.000 X 119574712 start lost A/G snv 3
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 13
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1555202806
BBS10
1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 3
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1553268563
USH2A
1 215845823 coding sequence variant C/- delins 2
rs1553549717
SCN1A ; SCN1A-AS1
1.000 2 166051871 frameshift variant C/- delins 2
rs1556039406
NHS
1.000 X 17727350 frameshift variant C/- delins 2
rs762904815
BRPF1
1.000 3 9744394 frameshift variant C/-;CC;CCC delins 3
rs761532715
PKDCC
1.000 2 42053250 stop gained C/A snv 3
rs1554931219
BDNF ; BDNF-AS
11 27658063 stop gained C/A snv 2