Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 22
rs1057518083
DYNC1H1
0.851 0.120 14 101986552 missense variant C/T snv 21
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 19
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 10
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 8
rs879253887
IGHMBP2
0.925 0.120 11 68934542 missense variant C/T snv 4.1E-06 6
rs1553475005
CHN1
1.000 0.120 2 174824485 missense variant A/G snv 4
rs758058910
CAPN3
1.000 0.120 15 42360096 missense variant C/A;T snv 4.0E-06 1.4E-05 3
rs768090444
CAPN3
1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-05 3