Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs1057518895
RAB33A ; AIFM1
1.000 0.120 X 130137134 start lost A/G snv 4
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del 7
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs886039909
HSPG2
0.882 0.120 1 21864095 splice region variant C/T snv 6
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs150168522
COL6A2
0.925 0.160 21 46132367 missense variant G/A;C snv 4.9E-05; 2.9E-05 4
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs769234940
CHAT
0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 11
rs201439531
CHAT
0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 11
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 8