Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs13107325
SLC39A8
0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 30
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs79105258
CUX2
12 111280427 intron variant C/A;T snv 23
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv 19
rs11556924
ZC3HC1
0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 14
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv 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
rs1553201258
DARS2
0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 14
rs1057523354
COL4A1
0.763 0.480 13 110179387 missense variant C/A snv 13
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 13
rs7138803 0.827 0.240 12 49853685 intergenic variant G/A;T snv 12
rs867593888
MYH9
0.882 0.200 22 36292059 missense variant T/C snv 11
rs1378942
CSK
0.790 0.240 15 74785026 intron variant C/A;T snv 10
rs2521501
FES
0.925 0.080 15 90894158 intron variant A/C;T snv 10
rs2681492
ATP2B1
0.925 0.040 12 89619312 intron variant T/C;G snv 10
rs633185
ARHGAP42
0.925 0.080 11 100722807 intron variant G/A;C snv 10
rs1557551678
CLDN19
0.882 0.160 1 42738421 missense variant C/A snv 9
rs16998073 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 9
rs1800775
CETP
0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06 9
rs11099098 0.925 0.120 4 80248758 intergenic variant G/C;T snv 8
rs11206510 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 8
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 8