Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs137853305
TPM2
0.851 0.120 9 35685529 missense variant G/A snv 7
rs104894312
TNNI2 ; LOC107984299
0.851 0.080 11 1841468 stop gained C/T snv 5
rs1554289078
KLHL7
0.925 0.080 7 23140945 splice donor variant G/A snv 3
rs387906657
MYBPC1
0.925 0.080 12 101642459 missense variant T/C snv 7.0E-06 3
rs387906658
MYBPC1
0.925 0.080 12 101670362 missense variant T/C snv 3
rs772816537
TPM3
1.000 0.080 1 154173179 missense variant G/A snv 8.0E-06 3
rs121913618
MYH3
0.925 0.080 17 10641318 missense variant G/A snv 2
rs797045727
MYH3
0.925 0.080 17 10642903 missense variant A/C snv 2
rs1555621138
PIEZO2
0.925 0.200 18 10671603 inframe deletion TCT/- delins 2
rs1555242493
LOC105369937 ; MYBPC1
1.000 0.080 12 101653159 missense variant G/C snv 1
rs763091291
MYH3
1.000 0.080 17 10644452 missense variant A/T snv 4.0E-06 1
rs1555769818
RYR1
1.000 0.080 19 38458115 missense variant G/C snv 1
rs1555788577
RYR1
1.000 0.080 19 38517523 missense variant T/C snv 1