Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs1555630216
PIEZO2
0.790 0.160 18 10714931 splice acceptor variant C/T snv 22
rs1555648288
PIEZO2
0.790 0.160 18 10795003 splice acceptor variant C/T snv 22
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 15
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs1553201258
DARS2
0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 14
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins 14
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 11
rs1057518871
COL5A1
0.925 0.120 9 134798410 frameshift variant C/- delins 10
rs387906905
TRPV4
0.882 0.120 12 109798819 missense variant C/T snv 10
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs780770356
PLOD2 ; LNCSRLR
0.851 0.120 3 146071125 stop gained G/A snv 9
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv 7
rs730882245
KIAA1109
0.827 0.160 4 122207168 stop gained T/A snv 6
rs759244819
ALG12
0.882 0.120 22 49904498 frameshift variant T/- delins 2.8E-05 3
rs121908620
CHST3
0.925 0.080 10 72007888 missense variant T/C snv 2
rs121909109
PITX1 ; C5orf66
1.000 0.080 5 135031290 missense variant C/T snv 1
rs35470562
COL9A1
1.000 0.080 6 70240718 missense variant C/T snv 7.0E-06 1
rs3801776
HOXA9 ; HOXA10-HOXA9
1.000 0.080 7 27165663 intron variant A/G snv 0.73 1