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: rs1565631430
rs1565631430
MYBPC3
2 1.000 0.080 11 47350600 frameshift variant ATGGGCTCTG/- del 0.700 0
dbSNP: rs1566147422
rs1566147422
MYL2
1 12 110911146 frameshift variant AG/- del 0.700 0
dbSNP: rs1566967399
rs1566967399
ACTC1 ; LOC101928174
1 15 34792158 missense variant C/T snv 0.700 0
dbSNP: rs1568344751
rs1568344751
UQCRFS1
3 1.000 0.080 19 29208159 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1568346416
rs1568346416
UQCRFS1 ; LOC105372352
3 1.000 0.080 19 29213078 missense variant A/T snv 0.700 0
dbSNP: rs1568523935
rs1568523935
SLC25A42
20 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
dbSNP: rs1569552936
rs1569552936
TAZ
1 X 154420249 frameshift variant C/- delins 0.700 0
dbSNP: rs193922626
rs193922626
RYR2
1 1 237590901 missense variant G/A;C snv 1.6E-05; 4.8E-05 0.700 0
dbSNP: rs193922667
rs193922667
CSRP3
1 11 19186265 missense variant C/T snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs193922668
rs193922668
DSP
1 6 7568551 inframe deletion ATT/- delins 0.700 0
dbSNP: rs193922671
rs193922671
DSP
1 6 7585226 missense variant C/G snv 5.2E-05 4.9E-05 0.700 0
dbSNP: rs193922674
rs193922674
PKP2
3 0.925 0.080 12 32802557 splice acceptor variant C/G snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
9 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs193922683
rs193922683
ABCC9
1 12 21852457 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs193922697
rs193922697
PRKAG2
2 1.000 0.040 7 151576438 missense variant G/A;T snv 1.6E-05 0.700 0
dbSNP: rs193922708
rs193922708
DSC2
1 18 31086683 missense variant G/A;T snv 4.8E-05 0.700 0
dbSNP: rs193922712
rs193922712
MYLK2
1 20 31821560 missense variant A/G snv 6.0E-05 5.6E-05 0.700 0
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
3 0.925 0.160 X 101399747 3 prime UTR variant C/T snv 0.700 0
dbSNP: rs199474703
rs199474703
MYL3
5 0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs199476316
rs199476316
TPM1
3 0.925 0.080 15 63062219 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs201217593
rs201217593
DMD
8 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
dbSNP: rs202024436
rs202024436
CRYAB
1 11 111908969 splice acceptor variant T/C snv 3.6E-05 2.1E-05 0.700 0
dbSNP: rs267607004
rs267607004
RBM20
4 0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs267607571
rs267607571
LMNA
4 0.882 0.160 1 156134458 missense variant G/A;T snv 0.700 0
dbSNP: rs267607577
rs267607577
LMNA
2 1 156136352 frameshift variant GCACGCAC/-;GCACGCACGCAC delins 0.700 0