Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 9
rs587777449
IFIH1
0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 6
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1555570093
MPDU1
0.807 0.280 17 7586699 missense variant G/A snv 12
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 12
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 8
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8
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
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
rs1556912828
HUWE1
0.925 0.280 X 53536209 missense variant G/C snv 6
rs782393002
HUWE1
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 6
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv 5
rs1557006903
HUWE1
0.851 0.280 X 53615815 missense variant C/T snv 5
rs1557006873
HUWE1
0.925 0.280 X 53615786 missense variant A/C snv 4
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20