Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs121912443
SOD1
0.732 0.160 21 31663857 missense variant A/G snv 15
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs121918075
TTR
0.752 0.280 18 31598632 missense variant A/G snv 15
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 14
rs387906789
VCP
0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 14
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 11
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 11
rs80338957
SCN4A
0.776 0.160 17 63957427 missense variant G/A snv 11
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 10
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv 10
rs28937581
DYSF
0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 9
rs914586984
LOC105371858 ; SCN4A
1.000 0.120 17 63959275 missense variant G/C;T snv 9
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 8
rs121434589
MYH2 ; MYHAS
0.851 0.200 17 10535137 missense variant C/T snv 8
rs35049558
MYL2
0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 8
rs761051758
HSPB1
0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06 7
rs137853305
TPM2
0.851 0.120 9 35685529 missense variant G/A snv 7