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: 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: rs1060501479
rs1060501479
MYBPC3
1 1.000 0.040 11 47351465 frameshift variant -/C ins 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: rs397515990
rs397515990
MYBPC3
4 0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06 0.700 1.000 9 1998 2014
dbSNP: rs1454735927
rs1454735927
TNNI3
1 1.000 0.040 19 55154043 frameshift variant T/- del 0.010 1.000 1 2014 2014
dbSNP: rs397515896
rs397515896
MYBPC3
1 1.000 0.040 11 47343062 frameshift variant A/- del 0.700 1.000 1 2003 2003
dbSNP: rs727503166
rs727503166
MYBPC3
5 0.851 0.080 11 47332110 frameshift variant T/- del 0.700 1.000 1 2009 2009
dbSNP: rs727503172
rs727503172
MYBPC3
4 0.882 0.080 11 47333236 frameshift variant C/- del 0.700 1.000 1 2006 2006
dbSNP: rs727503186
rs727503186
MYBPC3
1 1.000 0.040 11 47337437 frameshift variant G/- del 0.700 1.000 1 2003 2003
dbSNP: rs1060501478
rs1060501478
MYBPC3
1 1.000 0.040 11 47338549 frameshift variant T/- del 0.700 0
dbSNP: rs1565623216
rs1565623216
MYBPC3
1 1.000 0.040 11 47333331 splice acceptor variant TGTCTGCGGGAGAC/- del 0.700 0
dbSNP: rs1565631381
rs1565631381
MYBPC3
1 1.000 0.040 11 47350565 frameshift variant CA/- del 0.700 0
dbSNP: rs397515931
rs397515931
MYBPC3
1 1.000 0.040 11 47341172 frameshift variant G/- del 0.700 0
dbSNP: rs397515934
rs397515934
MYBPC3
3 0.925 0.080 11 47341140 frameshift variant A/- del 0.700 0
dbSNP: rs397516047
rs397516047
MYBPC3
1 1.000 0.040 11 47350087 frameshift variant AC/- del 0.700 0
dbSNP: rs397516738
rs397516738
LAMP2
1 1.000 0.040 X 120455563 frameshift variant A/- del 0.700 0
dbSNP: rs727503187
rs727503187
MYBPC3
1 1.000 0.040 11 47337455 frameshift variant GACGCGCATCTCGTACACCACG/- del 0.700 0
dbSNP: rs727503217
rs727503217
MYBPC3
1 1.000 0.040 11 47349895 frameshift variant A/- del 0.700 0
dbSNP: rs727504390
rs727504390
MYBPC3
1 1.000 0.040 11 47332195 frameshift variant TG/- del 0.700 0
dbSNP: rs727505152
rs727505152
MYBPC3
1 1.000 0.040 11 47343042 frameshift variant T/- del 0.700 0
dbSNP: rs730880646
rs730880646
MYBPC3
1 1.000 0.040 11 47342047 frameshift variant C/- del 0.700 0
dbSNP: rs730880653
rs730880653
MYBPC3
1 1.000 0.040 11 47337482 frameshift variant G/- del 0.700 0
dbSNP: rs864622224
rs864622224
MYBPC3
1 1.000 0.040 11 47351369 frameshift variant C/- del 0.700 0
dbSNP: rs876657705
rs876657705
MYBPC3
2 0.925 0.080 11 47335158 frameshift variant A/- del 0.700 0
dbSNP: rs878853831
rs878853831
MYBPC3
1 1.000 0.040 11 47342141 frameshift variant ACCTCCAG/- del 0.700 0