Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555268712
GNPTAB
0.882 0.160 12 101757459 coding sequence variant -/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA delins 3
rs1057516037
HDAC8
0.925 X 72464626 protein altering variant TGGAG/AC delins 4
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs754279998
MKS1
0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 10
rs746200792
SZT2
0.925 0.120 1 43437254 inframe deletion TGT/- delins 8
rs727503773
SMC1A
0.882 0.160 X 53412950 inframe deletion TCT/- delins 7
rs1554943158
DEAF1
0.882 0.040 11 681045 inframe deletion CTT/- delins 6
rs587782991
PURA
0.882 0.080 5 140114991 inframe deletion TCT/- delins 6
rs587783000
PURA
0.925 0.080 5 140114444 inframe deletion TCG/- del 5
rs775394591
FREM2
0.851 0.120 13 38784727 inframe deletion TCT/- delins 2.8E-05 5
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs587776954
RNU7-1 ; C12orf57
0.827 0.320 12 6944122 start lost A/G snv 3.2E-05 2.1E-05 6
rs730882216
NUP107
1.000 12 68690746 start lost G/A snv 4.0E-06 2
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 17
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs1560164682
ALG3
0.882 0.080 3 184245709 splice region variant T/C snv 5
rs869312742
SMG9
0.882 0.080 19 43744768 splice region variant T/C snv 5
rs794726775
SCN1A-AS1 ; SCN1A
0.882 0.040 2 166039420 splice region variant T/A snv 4
rs730882247
TMEM92
0.882 0.040 17 50277743 splice region variant A/G snv 3
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24