Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1327062642
TULP1
0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 11
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7
rs34016308
CPSF2
1.000 0.040 14 92149397 intron variant -/TA delins 0.19 1
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs201140091
FRMPD2
1.000 0.040 10 48200198 intron variant A/-;AAAAA;AAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAA delins 1
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs11873439
CCDC102B
1.000 0.040 18 69077051 intergenic variant A/C snv 0.17 2
rs498186
WTAPP1 ; MMP1
0.925 0.080 11 102798914 intron variant A/C snv 0.40 2
rs4948523
BICC1
1.000 0.040 10 58579338 intron variant A/C snv 0.51 1
rs11225395
MMP8
0.776 0.360 11 102725749 intron variant A/C;G snv 11
rs1064583
NT5DC1 ; COL10A1
0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 2
rs7968679
PZP ; KLRG1
1.000 0.040 12 9160708 intron variant A/C;G snv 1
rs3026393
ELP4 ; PAX6
0.925 0.040 11 31790667 intron variant A/C;G;T snv 0.48; 8.0E-06; 7.6E-05 2
rs11658305 1.000 0.040 17 7526004 intergenic variant A/C;T snv 1
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs28940881
LOC107984363 ; TYR
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 16
rs2946834
LINC02456 ; HELLPAR
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63 7
rs5742632
LINC02456 ; IGF1
0.851 0.120 12 102462696 intron variant A/G snv 0.26 4
rs10453441
WNT7B
1.000 0.040 22 45967859 intron variant A/G snv 0.40 3
rs12193446
LAMA2 ; LOC102723409
0.925 0.040 6 129498893 intron variant A/G snv 6.4E-02 3
rs577948
MIR100HG
0.882 0.040 11 122159482 intron variant A/G snv 0.33 3
rs9318086
MIPEP
0.882 0.040 13 23858328 intron variant A/G snv 0.55 3
rs17122571
LOC105369750
0.925 0.040 12 48027251 upstream gene variant A/G snv 8.2E-02 2