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: rs1555144459
rs1555144459
PKP2
3 0.925 0.120 12 32841038 frameshift variant -/A delins 0.700 0
dbSNP: rs1559448864
rs1559448864
TTN ; TTN-AS1
1 2 178575386 frameshift variant -/A delins 0.700 0
dbSNP: rs1559469421
rs1559469421
TTN ; TTN-AS1
1 2 178577230 frameshift variant -/A delins 0.700 0
dbSNP: rs1561698714
rs1561698714
DSP
1 6 7580519 frameshift variant -/A delins 0.700 0
dbSNP: rs1565623713
rs1565623713
MYBPC3
1 11 47333996 frameshift variant -/A delins 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: rs1565626367
rs1565626367
MYBPC3
1 11 47339656 frameshift variant -/ATAG delins 0.700 0
dbSNP: rs1554398705
rs1554398705
FLNC
1 7 128842906 frameshift variant -/C delins 0.700 0
dbSNP: rs1561701721
rs1561701721
DSP
1 6 7583201 frameshift variant -/C delins 0.700 0
dbSNP: rs1565627145
rs1565627145
MYBPC3
1 11 47341183 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: rs35049558
rs35049558
MYL2
8 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs730881119
rs730881119
TNNT2
1 1 201359629 frameshift variant -/G delins 0.700 0
dbSNP: rs1565628520
rs1565628520
MYBPC3
1 11 47343585 stop gained -/GCTCACCTGGTAGGCCGGCTCCAGCTTCT delins 0.700 0
dbSNP: rs397516049
rs397516049
MYBPC3
3 0.925 0.080 11 47350082 frameshift variant -/T delins 3.0E-05 7.0E-06 0.700 0
dbSNP: rs730880365
rs730880365
TTN ; TTN-AS1
3 1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06 0.700 0
dbSNP: rs730880336
rs730880336
MYBPC3
3 0.925 0.040 11 47346254 frameshift variant -/TGCCG delins 4.0E-06 0.700 0
dbSNP: rs730880689
rs730880689
MYBPC3
1 11 47343543 stop gained -/TGGTCAGCCAGTTCCA delins 0.700 0
dbSNP: rs730880492
rs730880492
LAMP2
2 1.000 0.160 X 120447993 frameshift variant -/TGTTG delins 5.5E-06; 5.5E-06 0.700 0
dbSNP: rs730880092
rs730880092
DSP
1 6 7583572 frameshift variant A/- del 5.2E-05 2.8E-05 0.700 1.000 1 2010 2010
dbSNP: rs1559262463
rs1559262463
TTN ; TTN-AS1
1 2 178558000 frameshift variant A/- del 0.700 0
dbSNP: rs397515934
rs397515934
MYBPC3
3 0.925 0.080 11 47341140 frameshift variant A/- del 0.700 0
dbSNP: rs730880655
rs730880655
MYBPC3
1 11 47336010 frameshift variant A/- del 0.700 0
dbSNP: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.050 0.800 5 2009 2019
dbSNP: rs104894204
rs104894204
CSRP3
4 0.882 0.040 11 19188245 missense variant A/C snv 0.010 1.000 1 2018 2018