Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs1554943158
rs1554943158
DEAF1
6 0.882 0.040 11 681045 inframe deletion CTT/- delins 0.700 1.000 1 2017 2017
dbSNP: rs748787734
rs748787734
TUBB4A
13 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs1057518822
rs1057518822
CEP290
4 1.000 0.080 12 88102888 stop gained G/A snv 0.700 0
dbSNP: rs1057518845
rs1057518845
SOX5 ; LOC105369696
5 0.925 0.120 12 23755726 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1060499939
rs1060499939
SPAST
4 0.882 0.120 2 32137172 missense variant G/C;T snv 0.700 0
dbSNP: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs137852834
rs137852834
CEP290
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
dbSNP: rs1554199368
rs1554199368
NSD1
12 0.827 0.160 5 177256956 missense variant C/T snv 0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
11 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
dbSNP: rs1555642784
rs1555642784
CNTNAP1
5 0.851 0.160 17 42688979 frameshift variant -/C delins 0.700 0
dbSNP: rs1555955296
rs1555955296
CDKL5
17 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
dbSNP: rs1557569831
rs1557569831
SZT2
8 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs1564062144
rs1564062144
HNRNPK
7 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0
dbSNP: rs267608327
rs267608327
MECP2
25 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
dbSNP: rs34757931
rs34757931
VPS11
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
dbSNP: rs746200792
rs746200792
SZT2
8 0.925 0.120 1 43437254 inframe deletion TGT/- delins 0.700 0
dbSNP: rs750195040
rs750195040
POMT1
12 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
dbSNP: rs75184679
rs75184679
RNASEH2B
16 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
dbSNP: rs864309483
rs864309483
ADCY5
9 0.851 0.080 3 123352464 missense variant G/A snv 0.700 0
dbSNP: rs869312704
rs869312704
TBR1
10 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
21 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0