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: rs397515966
rs397515966
MYBPC3
2 0.925 0.080 11 47337502 frameshift variant -/A delins 4.0E-06; 1.2E-05 7.0E-06 0.700 1.000 2 2004 2014
dbSNP: rs397515944
rs397515944
MYBPC3
1 1.000 0.040 11 47339677 frameshift variant -/A delins 4.1E-06 0.700 1.000 1 2015 2015
dbSNP: rs397515970
rs397515970
MYBPC3
2 0.925 0.080 11 47337468 frameshift variant -/A delins 0.700 0
dbSNP: rs397516008
rs397516008
MYBPC3
2 0.925 0.080 11 47333297 frameshift variant -/A ins 7.0E-06 0.700 0
dbSNP: rs397516059
rs397516059
MYBPC3
5 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 0.700 0
dbSNP: rs727503209
rs727503209
MYBPC3
1 1.000 0.040 11 47346303 frameshift variant -/A delins 0.700 0
dbSNP: rs730880335
rs730880335
MYBPC3
1 1.000 0.040 11 47350574 frameshift variant -/A delins 0.700 0
dbSNP: rs730880341
rs730880341
MYBPC3
2 0.925 0.080 11 47337708 frameshift variant -/A delins 0.700 0
dbSNP: rs730880361
rs730880361
MYBPC3
1 1.000 0.040 11 47332241 frameshift variant -/A delins 0.700 0
dbSNP: rs786204329
rs786204329
MYBPC3
2 0.925 0.080 11 47348494 frameshift variant -/AAGGCAGGCTGGGCATCGGTGATGTG delins 0.700 0
dbSNP: rs730880337
rs730880337
MYBPC3
1 1.000 0.040 11 47332968 splice acceptor variant -/ACTC delins 0.700 0
dbSNP: rs1555123633
rs1555123633
MYBPC3
1 1.000 0.040 11 47350599 frameshift variant -/ATGG delins 0.700 0
dbSNP: rs397515963
rs397515963
MYBPC3
4 0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05 0.700 1.000 11 1998 2015
dbSNP: rs1060501479
rs1060501479
MYBPC3
1 1.000 0.040 11 47351465 frameshift variant -/C ins 0.700 0
dbSNP: rs1565628078
rs1565628078
MYBPC3
1 1.000 0.040 11 47342893 frameshift variant -/C delins 0.700 0
dbSNP: rs397515960
rs397515960
MYBPC3
3 0.925 0.080 11 47337791 frameshift variant -/C delins 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: rs727503174
rs727503174
MYBPC3
2 0.925 0.080 11 47333580 frameshift variant -/C delins 0.700 0
dbSNP: rs730880672
rs730880672
MYBPC3
1 1.000 0.040 11 47333202 frameshift variant -/C delins 0.700 0
dbSNP: rs876657703
rs876657703
MYBPC3
2 0.925 0.080 11 47342842 frameshift variant -/C delins 0.700 0
dbSNP: rs193922384
rs193922384
MYBPC3
3 0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05 0.700 1.000 8 1995 2014
dbSNP: rs730880362
rs730880362
MYBPC3
1 1.000 0.040 11 47351315 frameshift variant -/CC delins 4.9E-06; 1.5E-05 0.700 0
dbSNP: rs1555120937
rs1555120937
MYBPC3
1 1.000 0.040 11 47335940 frameshift variant -/CGCCACTTGAGGGAGACCGTGGTGTC delins 0.700 0
dbSNP: rs35049558
rs35049558
MYL2
8 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.040 1.000 4 2019 2019
dbSNP: rs1555123438
rs1555123438
MYBPC3
1 1.000 0.040 11 47349921 splice region variant -/CTGC delins 0.700 0