Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs369447743
DCAF17 ; METTL8
2 171434679 synonymous variant C/T snv 7.4E-04 7.7E-05 2
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv 19
rs1057518805
SYT2 ; LOC105371686
1 202596928 inframe deletion ATAGTC/- delins 2
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 11
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 6
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv 6
rs1057518958
CHRND
1.000 0.040 2 232531353 frameshift variant T/- del 4
rs1057518957
CHRND
1.000 0.040 2 232535143 missense variant G/T snv 4
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs121918075
TTR
0.752 0.280 18 31598632 missense variant A/G snv 15
rs121912443
SOD1
0.732 0.160 21 31663857 missense variant A/G snv 15
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 6
rs387906789
VCP
0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 14
rs137853305
TPM2
0.851 0.120 9 35685529 missense variant G/A snv 7
rs137853306
TPM2
0.882 0.080 9 35689265 missense variant C/T snv 6
rs764959600
PLA2G6
1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06 3
rs118192170
RYR1
0.882 0.120 19 38584989 missense variant T/A;C snv 6