Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894312
rs104894312
TNNI2 ; LOC107984299
5 0.851 0.080 11 1841468 stop gained C/T snv 0.700 0
dbSNP: rs1554289078
rs1554289078
KLHL7
3 0.925 0.080 7 23140945 splice donor variant G/A snv 0.700 0
dbSNP: rs1555242493
rs1555242493
MYBPC1 ; LOC105369937
1 1.000 0.080 12 101653159 missense variant G/C snv 0.700 0
dbSNP: rs1555621138
rs1555621138
PIEZO2
2 0.925 0.200 18 10671603 inframe deletion TCT/- delins 0.700 0
dbSNP: rs1555769818
rs1555769818
RYR1
1 1.000 0.080 19 38458115 missense variant G/C snv 0.700 0
dbSNP: rs1555788577
rs1555788577
RYR1
1 1.000 0.080 19 38517523 missense variant T/C snv 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs797045727
rs797045727
MYH3
2 0.925 0.080 17 10642903 missense variant A/C snv 0.700 0
dbSNP: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
dbSNP: rs137853305
rs137853305
TPM2
7 0.851 0.120 9 35685529 missense variant G/A snv 0.020 1.000 2 2007 2010
dbSNP: rs121913618
rs121913618
MYH3
2 0.925 0.080 17 10641318 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs387906657
rs387906657
MYBPC1
3 0.925 0.080 12 101642459 missense variant T/C snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs387906658
rs387906658
MYBPC1
3 0.925 0.080 12 101670362 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs763091291
rs763091291
MYH3
1 1.000 0.080 17 10644452 missense variant A/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs772816537
rs772816537
TPM3
3 1.000 0.080 1 154173179 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010