Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1555247805
MED13L
0.925 0.160 12 116008442 frameshift variant A/- del 4
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs1555570093
MPDU1
0.807 0.280 17 7586699 missense variant G/A snv 12
rs1555570110
MPDU1
0.827 0.240 17 7586766 missense variant A/C snv 9
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv 3
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1556912828
HUWE1
0.925 0.280 X 53536209 missense variant G/C snv 6
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv 5
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv 7
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv 7
rs1557006873
HUWE1
0.925 0.280 X 53615786 missense variant A/C snv 4
rs1557006903
HUWE1
0.851 0.280 X 53615815 missense variant C/T snv 5
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins 7
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24