Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs148000791
AHI1
0.925 0.120 6 135323233 missense variant T/C snv 3.8E-03 1.2E-03 1
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 12
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs28940877
LOC107984363 ; TYR
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 9
rs376823382
LOC107984363 ; TYR
0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04 8
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 6
rs1057518845
SOX5 ; LOC105369696
0.925 0.120 12 23755726 splice acceptor variant T/G snv 5
rs1555247805
MED13L
0.925 0.160 12 116008442 frameshift variant A/- del 4
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 5
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19