Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins 7
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs1555247805
MED13L
0.925 0.160 12 116008442 frameshift variant A/- del 4
rs1555570110
MPDU1
0.827 0.240 17 7586766 missense variant A/C snv 9
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 7
rs1557006873
HUWE1
0.925 0.280 X 53615786 missense variant A/C snv 4
rs782393002
HUWE1
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 6
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs864309488
GMNN
0.776 0.440 6 24777296 missense variant A/G snv 14
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 8
rs376823382
LOC107984363 ; TYR
0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04 8
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46