Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs122445110
ATRX
0.882 0.200 X 77589902 missense variant A/G snv 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1064793083
CHD7
0.882 0.080 8 60828682 missense variant C/T snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1554602465
CHD7
0.882 0.080 8 60845063 missense variant G/A snv 4
rs121912880
COL2A1
0.882 0.080 12 47986353 missense variant C/A;T snv 4
rs1555473499
CREBBP
0.925 0.120 16 3738605 missense variant A/G snv 4
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1057517825
DERL3 ; SMARCB1
0.925 22 23834143 missense variant G/A snv 4
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs755407407
DNAH5
0.925 0.160 5 13762777 missense variant C/G snv 8.0E-06 7.0E-06 4
rs777218310
ECHS1
0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04 4
rs387906623
FBN1
0.882 0.120 15 48460258 missense variant C/T snv 4
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs397509425
GMPPB
0.882 3 49722604 missense variant G/A snv 3.6E-05 1.4E-05 4
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 4
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv 4
rs886039392
ITPR1
0.882 0.240 3 4645678 missense variant C/T snv 4
rs1555179320
LOC105369689 ; ABCC9
0.925 0.040 12 21817283 missense variant C/T snv 4
rs80358312
LRP5
0.925 0.080 11 68403607 missense variant G/A snv 7.0E-06 4
rs797044883
MAGEL2
0.882 0.160 15 23645831 stop gained G/A snv 4
rs80338677
MAN2B1
0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 4
rs201553266
NEB
0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06 4