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 5 2004 2017
dbSNP: rs397516008
rs397516008
MYBPC3
2 0.925 0.080 11 47333297 frameshift variant -/A ins 7.0E-06 0.700 1.000 5 2010 2017
dbSNP: rs397516059
rs397516059
MYBPC3
5 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 0.700 1.000 1 2009 2009
dbSNP: rs1565624090
rs1565624090
MYBPC3
1 1.000 0.080 11 47335078 frameshift variant -/A delins 0.700 0
dbSNP: rs778568339
rs778568339
TCAP
2 0.925 0.080 17 39665382 frameshift variant -/AGGTGTCG delins 9.2E-05 1.4E-05 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: rs727503174
rs727503174
MYBPC3
2 0.925 0.080 11 47333580 frameshift variant -/C delins 0.700 1.000 2 2015 2017
dbSNP: rs1565625473
rs1565625473
MYBPC3
1 1.000 0.080 11 47337725 frameshift variant -/C delins 0.700 0
dbSNP: rs1565626409
rs1565626409
MYBPC3
1 1.000 0.080 11 47339714 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: rs869025468
rs869025468
MYBPC3
1 1.000 0.080 11 47333703 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 6 1995 2014
dbSNP: rs1565625777
rs1565625777
MYBPC3
1 1.000 0.080 11 47338519 frameshift variant -/CGAT delins 0.700 0
dbSNP: rs397516007
rs397516007
MYBPC3
2 0.925 0.080 11 47333331 frameshift variant -/G delins 0.700 1.000 1 2006 2006
dbSNP: rs397516049
rs397516049
MYBPC3
3 0.925 0.080 11 47350082 frameshift variant -/T delins 3.0E-05 7.0E-06 0.700 1.000 2 2016 2017
dbSNP: rs879254614
rs879254614
LDLR
2 0.925 0.120 19 11105555 frameshift variant -/T ins 0.010 1.000 1 2013 2013
dbSNP: rs730880720
rs730880720
MYBPC3
1 1.000 0.080 11 47332836 frameshift variant -/T delins 0.700 0
dbSNP: rs794729138
rs794729138
PLN ; CEP85L
1 1.000 0.080 6 118558982 frameshift variant -/TC delins 7.0E-06 0.700 0
dbSNP: rs1064793202
rs1064793202
MYBPC3
2 0.925 0.080 11 47333622 frameshift variant -/TT delins 0.700 0
dbSNP: rs397515934
rs397515934
MYBPC3
3 0.925 0.080 11 47341140 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs876657705
rs876657705
MYBPC3
2 0.925 0.080 11 47335158 frameshift variant A/- del 0.700 0
dbSNP: rs727504331
rs727504331
TNNT2
2 0.925 0.080 1 201365242 missense variant A/C snv 8.0E-06 0.700 0
dbSNP: rs387906397
rs387906397
MYBPC3
4 0.851 0.080 11 47333192 splice donor variant A/C;G snv 0.700 1.000 5 2007 2014