Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121908620
CHST3
0.925 0.080 10 72007888 missense variant T/C snv 2
rs189468720
LOC105369775 ; HOXC12
0.925 0.080 12 53955457 missense variant C/G snv 3.6E-03 3.6E-03 2
rs1135056
COL9A1
1.000 0.080 6 70252130 missense variant T/C snv 0.37 0.38 1
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
rs592121
COL9A1
1.000 0.080 6 70274733 missense variant A/G;T snv 0.40 1
rs730882191
PITX1
1.000 0.080 5 135028925 frameshift variant GCCGTACGGGCAAGCGCCCGGCGACATGGCCGAGT/- delins 1
rs7969148
RFLNA ; ZNF664-RFLNA
1.000 0.080 12 124129992 intron variant T/C snv 0.23 1
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 15
rs1135401744
KYNU
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 14
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
rs778360818
PLOD2
0.851 0.120 3 146079255 missense variant C/A snv 4.0E-06 1.4E-05 9
rs780770356
PLOD2 ; LNCSRLR
0.851 0.120 3 146071125 stop gained G/A snv 9
rs771785420
GAN
0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 8
rs1470699812
FLNB
0.925 0.120 3 58143562 inframe deletion AGG/- delins 8.0E-06 5
rs759244819
ALG12
0.882 0.120 22 49904498 frameshift variant T/- delins 2.8E-05 3
rs761221480
ALG12
0.882 0.120 22 49913649 frameshift variant C/- del 1.6E-05 7.0E-06 3
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
rs142433332
DARS2
0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 14
rs1553201258
DARS2
0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 14
rs750195040
POMT1
0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 12
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9