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: rs1562846694
rs1562846694
TFR2 ; ACTL6B
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs886039773
rs886039773
SON
3 0.925 0.120 21 33554982 frameshift variant TTAG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1447313633
rs1447313633
ZNF142
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019
dbSNP: rs746200792
rs746200792
SZT2
8 0.925 0.120 1 43437254 inframe deletion TGT/- delins 0.700 0
dbSNP: rs1554641549
rs1554641549
PUF60 ; SCRIB
3 0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins 0.700 0
dbSNP: rs1057516037
rs1057516037
HDAC8
4 0.925 X 72464626 protein altering variant TGGAG/AC delins 0.700 1.000 1 2016 2016
dbSNP: rs1555652383
rs1555652383
BPTF
13 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1569525894
rs1569525894
SLC9A6
14 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
dbSNP: rs1057519521
rs1057519521
EBF3
8 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
dbSNP: rs587782991
rs587782991
PURA
6 0.882 0.080 5 140114991 inframe deletion TCT/- delins 0.700 0
dbSNP: rs727503773
rs727503773
SMC1A
7 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 0
dbSNP: rs775394591
rs775394591
FREM2
5 0.851 0.120 13 38784727 inframe deletion TCT/- delins 2.8E-05 0.700 0
dbSNP: rs587783000
rs587783000
PURA
5 0.925 0.080 5 140114444 inframe deletion TCG/- del 0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs1085308055
rs1085308055
PTEN
4 0.882 0.120 10 87952240 frameshift variant TCAGT/- delins 0.700 0
dbSNP: rs587782992
rs587782992
PURA
5 0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins 0.700 0
dbSNP: rs1553544133
rs1553544133
SATB2
6 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0
dbSNP: rs1553920383
rs1553920383
PPP3CA
3 0.925 4 101032350 frameshift variant TC/- delins 0.700 0
dbSNP: rs730882217
rs730882217
CPLANE1
2 0.925 5 37153962 frameshift variant TC/- del 0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs1554121872
rs1554121872
CAMK2A
7 0.882 0.040 5 150250270 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs768663992
rs768663992
CLUAP1
5 0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs797044525
rs797044525
DYRK1A ; LOC105372797
9 0.925 21 37490244 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0