Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7639674
LOC107986057 ; CHL1-AS2
1.000 0.040 3 130837 non coding transcript exon variant A/T snv 0.31 1
rs7914775 1.000 0.040 10 101216904 intergenic variant C/T snv 8.8E-02 1
rs965084
CHL1-AS2 ; LOC107986057
1.000 0.040 3 125415 intron variant G/C snv 0.31 1
rs9819101
CHL1-AS2 ; LOC107986057
1.000 0.040 3 124824 intron variant G/A;C snv 0.35 1
rs1567558314
MYH3
0.807 0.080 17 10643215 intron variant CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- delins 7
rs1350968647
MYH3
0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06 5
rs763944786
RYR1
0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 5
rs771785420
GAN
0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 8
rs797045164
KIF1A
0.851 0.120 2 240785063 missense variant G/A snv 8
rs1567552713
MYH3
0.827 0.120 17 10633590 splice donor variant C/T snv 7
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv 6
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv 6
rs1567564042
MYH3
0.827 0.120 17 10654924 stop gained A/C snv 6
rs61751364
MECP2
0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 4
rs786204875
PTEN
0.882 0.120 10 87960913 stop gained G/A;T snv 4
rs281865136
EGR2
0.882 0.120 10 62813562 missense variant C/T snv 3
rs864622273
EGR2
0.882 0.120 10 62813412 missense variant C/T snv 4.0E-06 3
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 14
rs28937581
DYSF
0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 9
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 9