Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs387906905
TRPV4
0.882 0.120 12 109798819 missense variant C/T snv 10
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins 14
rs730882245
KIAA1109
0.827 0.160 4 122207168 stop gained T/A snv 6
rs7969148
RFLNA ; ZNF664-RFLNA
1.000 0.080 12 124129992 intron variant T/C snv 0.23 1
rs750195040
POMT1
0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 12
rs1057518871
COL5A1
0.925 0.120 9 134798410 frameshift variant C/- delins 10
rs730882191
PITX1
1.000 0.080 5 135028925 frameshift variant GCCGTACGGGCAAGCGCCCGGCGACATGGCCGAGT/- delins 1
rs121909109
PITX1 ; C5orf66
1.000 0.080 5 135031290 missense variant C/T snv 1
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs1135401744
KYNU
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 14
rs780770356
PLOD2 ; LNCSRLR
0.851 0.120 3 146071125 stop gained G/A snv 9
rs778360818
PLOD2
0.851 0.120 3 146079255 missense variant C/A snv 4.0E-06 1.4E-05 9
rs104893915
SLC26A2
0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 10
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv 7
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 11
rs1553201258
DARS2
0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 14
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
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs766335907
COMP
0.851 0.200 19 18787632 missense variant G/A;T snv 8.0E-06; 8.0E-06 4