Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 1
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 1
rs1006737
CACNA1C
0.695 0.120 12 2236129 intron variant G/A snv 0.36 7
rs1105879
UGT1A9 ; UGT1A6 ; UGT1A7 ; UGT1A10 ; UGT1A8
0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 2
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs72653762
ABCC6
0.851 0.240 16 16202006 missense variant T/C snv 5.6E-03 4.7E-03 13
rs61738009
CPA6 ; LOC102724708
0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 9
rs113994096
POLG
0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 7
rs113994094
POLG
0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03 6
rs121918799
SCN1A-AS1 ; SCN1A ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 2
rs35993949
CPA6
0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03 9
rs137939966
MYOCD
17 12752540 missense variant A/G snv 1.6E-04 8.4E-04 2
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 5
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 7
rs1805031
CACNB4
0.851 0.080 2 151880879 missense variant C/A snv 4.7E-04 7.3E-04 2
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 21
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11
rs750693623
ALDH7A1
1.000 0.040 5 126595165 frameshift variant C/- del 5.6E-04 2
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs768823392
SPG7
0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 10
rs201477273
POLG
0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04 4
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 10
rs878853282
FRRS1L
1.000 9 109141466 inframe deletion CCT/- delins 2.0E-05 2.7E-04 4