Gene: MYBPC3 ×
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: rs1060499604
rs1060499604
MYBPC3
4 0.851 0.080 11 47339323 splice donor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1060501478
rs1060501478
MYBPC3
1 1.000 0.040 11 47338549 frameshift variant T/- del 0.700 0
dbSNP: rs1060501479
rs1060501479
MYBPC3
1 1.000 0.040 11 47351465 frameshift variant -/C ins 0.700 0
dbSNP: rs1060501480
rs1060501480
MYBPC3
1 1.000 0.040 11 47332221 frameshift variant C/- delins 0.700 0
dbSNP: rs1060501481
rs1060501481
MYBPC3
1 1.000 0.040 11 47337420 frameshift variant -/TT delins 0.700 0
dbSNP: rs1064792936
rs1064792936
MYBPC3
1 1.000 0.040 11 47351272 frameshift variant TGG/CCTCC delins 0.700 0
dbSNP: rs113276889
rs113276889
MYBPC3
1 1.000 0.040 11 47343146 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs1265248322
rs1265248322
MYBPC3
1 1.000 0.040 11 47335874 splice donor variant CA/- delins 0.700 0
dbSNP: rs1555120937
rs1555120937
MYBPC3
1 1.000 0.040 11 47335940 frameshift variant -/CGCCACTTGAGGGAGACCGTGGTGTC delins 0.700 0
dbSNP: rs1555121172
rs1555121172
MYBPC3
1 1.000 0.040 11 47337425 frameshift variant C/- delins 0.700 0
dbSNP: rs1555122751
rs1555122751
MYBPC3
1 1.000 0.040 11 47346243 frameshift variant CTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCT/- delins 0.700 0
dbSNP: rs1555122811
rs1555122811
MYBPC3
1 1.000 0.040 11 47346622 splice donor variant ACCTC/- delins 0.700 0
dbSNP: rs1555123438
rs1555123438
MYBPC3
1 1.000 0.040 11 47349921 splice region variant -/CTGC delins 0.700 0
dbSNP: rs1555123629
rs1555123629
MYBPC3
1 1.000 0.040 11 47350591 frameshift variant G/- delins 0.700 0
dbSNP: rs1555123633
rs1555123633
MYBPC3
1 1.000 0.040 11 47350599 frameshift variant -/ATGG delins 0.700 0
dbSNP: rs1565622703
rs1565622703
MYBPC3
1 1.000 0.040 11 47332643 frameshift variant -/G delins 0.700 0
dbSNP: rs1565623216
rs1565623216
MYBPC3
1 1.000 0.040 11 47333331 splice acceptor variant TGTCTGCGGGAGAC/- del 0.700 0
dbSNP: rs1565625795
rs1565625795
MYBPC3
1 1.000 0.040 11 47338547 stop gained G/A snv 0.700 0
dbSNP: rs1565628078
rs1565628078
MYBPC3
1 1.000 0.040 11 47342893 frameshift variant -/C delins 0.700 0
dbSNP: rs1565629792
rs1565629792
MYBPC3
2 0.925 0.080 11 47347481 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1565631381
rs1565631381
MYBPC3
1 1.000 0.040 11 47350565 frameshift variant CA/- del 0.700 0
dbSNP: rs1565631424
rs1565631424
MYBPC3
1 1.000 0.040 11 47350595 frameshift variant C/- delins 0.700 0
dbSNP: rs190765116
rs190765116
MYBPC3
1 1.000 0.040 11 47336000 stop gained C/A;T snv 5.4E-04 1.2E-04 0.700 0
dbSNP: rs193922383
rs193922383
MYBPC3
2 0.925 0.080 11 47332896 stop gained G/A;T snv 4.2E-06 0.700 0
dbSNP: rs368765949
rs368765949
MYBPC3
3 0.882 0.080 11 47332244 stop gained C/A;T snv 7.0E-06 0.700 0