Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs876661151
LOC105369668 ; GRIN2B
0.925 0.040 12 13608611 missense variant C/A;T snv 6
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs79999086 1.000 0.040 20 1077583 intron variant T/C snv 1.2E-02 1
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs795544
DNAH5
0.925 0.040 5 13798450 intron variant A/C snv 0.80 2
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs7866070
PRRX2
1.000 0.040 9 129681820 intron variant A/G snv 0.39 1
rs7823467 1.000 0.040 8 59166175 intergenic variant T/C snv 0.49 1
rs775769424
BBS1 ; ZDHHC24
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 11
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 12
rs77008212
TRAF3IP1
1.000 0.040 2 238398472 intron variant A/G;T snv 1
rs7677751
PDGFRA
0.925 0.040 4 54258293 intron variant C/T snv 0.18 3
rs7534824
LOC101928334
1.000 0.040 1 101155890 intergenic variant A/G snv 7.2E-02 1
rs6029691
CHD6
1.000 0.040 20 41465724 intron variant C/G snv 0.33 1
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs4799964 1.000 0.040 18 30405513 intron variant T/A;G snv 1
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 41
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs3771395
VAX2
0.925 0.040 2 70905884 intron variant G/A snv 0.13 2
rs34635363
NPLOC4
1.000 0.040 17 81582224 intron variant G/A;C snv 1
rs2309717
LOC105374557
1.000 0.040 4 28248616 intron variant C/A snv 0.19 1
rs17172445
EGFR
1.000 0.040 7 55121522 intron variant G/T snv 2.2E-02 1
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32