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: rs1555409659
rs1555409659
TPM1
1 1.000 0.040 15 63062214 splice acceptor variant TACTCG/- delins 0.700 0
dbSNP: rs1563161306
rs1563161306
PRKAG2
1 1.000 0.040 7 151572693 missense variant A/G snv 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: rs1566531421
rs1566531421
MYH7
1 1.000 0.040 14 23424872 missense variant A/G snv 0.700 0
dbSNP: rs1566535410
rs1566535410
MYH7
5 0.851 0.080 14 23429297 missense variant T/C snv 0.700 0
dbSNP: rs1566536418
rs1566536418
MYH7
1 1.000 0.040 14 23430600 missense variant A/T snv 0.700 0
dbSNP: rs1566536436
rs1566536436
MYH7
1 1.000 0.040 14 23430607 missense variant T/G snv 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: rs193922697
rs193922697
PRKAG2
2 1.000 0.040 7 151576438 missense variant G/A;T snv 1.6E-05 0.700 0
dbSNP: rs2069544
rs2069544
MYH7
3 0.882 0.080 14 23425371 missense variant G/A;C;T snv 2.9E-04 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
dbSNP: rs372381770
rs372381770
MYH7 ; MHRT
2 0.925 0.080 14 23414101 missense variant G/A snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
dbSNP: rs397515888
rs397515888
MYBPC3
1 1.000 0.040 11 47343559 stop gained C/A;T snv 4.1E-06 0.700 0
dbSNP: rs397515891
rs397515891
MYBPC3
2 0.925 0.080 11 47343264 splice acceptor variant T/C snv 0.700 0
dbSNP: rs397515897
rs397515897
MYBPC3
3 0.882 0.080 11 47343019 splice donor variant A/G snv 0.700 0
dbSNP: rs397515931
rs397515931
MYBPC3
1 1.000 0.040 11 47341172 frameshift variant G/- del 0.700 0
dbSNP: rs397515932
rs397515932
MYBPC3
1 1.000 0.040 11 47341166 stop gained G/A;T snv 2.2E-05 0.700 0