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: rs1565631428
rs1565631428
MYBPC3
1 1.000 0.080 11 47350598 frameshift variant G/- del 0.700 0
dbSNP: rs1565631430
rs1565631430
MYBPC3
2 1.000 0.080 11 47350600 frameshift variant ATGGGCTCTG/- del 0.700 0
dbSNP: rs1567864804
rs1567864804
TCAP
1 1.000 0.080 17 39665360 start lost A/G snv 0.700 0
dbSNP: rs193922386
rs193922386
MYBPC3
3 0.882 0.080 11 47346365 stop gained G/A;C;T snv 4.9E-06 0.700 0
dbSNP: rs193922649
rs193922649
LAMP2
2 0.925 0.160 X 120449063 frameshift variant T/- del 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: rs193922681
rs193922681
ACTC1 ; LOC101928174
1 1.000 0.080 15 34794742 missense variant A/G snv 0.700 0
dbSNP: rs199472948
rs199472948
KCNH2
1 1.000 0.080 7 150951531 missense variant C/T snv 0.700 0
dbSNP: rs199728019
rs199728019
MYBPC3
1 1.000 0.080 11 47341995 missense variant C/T snv 1.2E-04 7.0E-05 0.700 0
dbSNP: rs267606977
rs267606977
PRKAG2
4 0.851 0.120 7 151560613 missense variant T/C snv 0.700 0
dbSNP: rs267607490
rs267607490
DES
6 0.925 0.160 2 219425734 missense variant C/T snv 0.700 0
dbSNP: rs267607581
rs267607581
LMNA
4 0.925 0.080 1 156137651 splice region variant C/G snv 0.700 0
dbSNP: rs368121566
rs368121566
MYBPC3
2 1.000 0.080 11 47347480 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs371061770
rs371061770
MYBPC3
3 0.882 0.080 11 47333610 missense variant G/A;C snv 6.6E-05 4.2E-05 0.700 0
dbSNP: rs375675796
rs375675796
MYBPC3
2 0.925 0.080 11 47337564 missense variant C/A;G;T snv 4.8E-05 0.700 0
dbSNP: rs397515938
rs397515938
MYBPC3
1 1.000 0.080 11 47339784 missense variant G/A snv 0.700 0
dbSNP: rs397515945
rs397515945
MYBPC3
1 1.000 0.080 11 47351325 missense variant C/T snv 2.3E-05 1.4E-05 0.700 0
dbSNP: rs397515960
rs397515960
MYBPC3
3 0.925 0.080 11 47337791 frameshift variant -/C delins 0.700 0
dbSNP: rs397515987
rs397515987
MYBPC3
2 0.925 0.080 11 47335113 frameshift variant GC/- delins 4.1E-06 0.700 0
dbSNP: rs397516002
rs397516002
MYBPC3
2 0.925 0.080 11 47333664 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs397516010
rs397516010
MYBPC3
2 0.925 0.080 11 47333271 stop gained C/A;G snv 0.700 0
dbSNP: rs397516014
rs397516014
MYBPC3
2 0.925 0.080 11 47333226 frameshift variant -/C delins 1.4E-05 0.700 0
dbSNP: rs397516035
rs397516035
MYBPC3
2 0.925 0.080 11 47332192 stop gained T/A snv 0.700 0
dbSNP: rs397516044
rs397516044
MYBPC3
2 0.925 0.080 11 47331882 splice acceptor variant C/T snv 4.1E-06 0.700 0
dbSNP: rs397516050
rs397516050
MYBPC3
2 0.925 0.080 11 47350077 missense variant C/T snv 6.5E-05 1.0E-04 0.700 0