Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 26
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
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
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv 21
rs1202430946
IGHMBP2
0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 17
rs1208636573
MSTO1 ; LOC105371452
0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 15
rs622288
MSTO1 ; LOC105371452
0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 15
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs387906905
TRPV4
0.882 0.120 12 109798819 missense variant C/T snv 10
rs778361520
ADGRB2
0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 9
rs767350733
ALS2
0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 7
rs1555358382
GCH1
14 54844115 stop gained G/A snv 6
rs765061840
SPG11
0.882 0.120 15 44633619 stop gained G/A snv 1.2E-05 7.0E-06 6
rs201689565
SPG11
1.000 0.080 15 44584299 missense variant A/G snv 4.8E-05 1.0E-04 5
rs371334506
SPG11
0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 5
rs1057518874
SPG11
15 44598738 missense variant C/A snv 4