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
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 15
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
rs1135401744
KYNU
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 14
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins 14
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs750195040
POMT1
0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 12
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
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