Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
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
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 17
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs1135401744
KYNU
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 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
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs104893915
SLC26A2
0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 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
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
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
rs118192174
RYR1
0.882 0.200 19 38499961 missense variant T/A snv 2.0E-05 2.1E-05 5
rs766335907
COMP
0.851 0.200 19 18787632 missense variant G/A;T snv 8.0E-06; 8.0E-06 4