Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs782222974
EMD
X 154379710 stop gained G/A;T snv 2.3E-05; 1.1E-05 1
rs1554398705
FLNC
7 128842906 frameshift variant -/C delins 1
rs886039136
GLA ; RPL36A-HNRNPH2
X 101403885 frameshift variant G/-;GG delins 1
rs2232228
HAS3
16 69109674 synonymous variant A/C;G snv 8.1E-06; 0.40 1
rs768021558
HDAC3
5 141625741 missense variant C/G snv 4.0E-06 1
rs1561323791
LOC101927055 ; TTN-AS1 ; TTN
2 178779110 stop gained C/T snv 1
rs1564526327
LOC107984244 ; VCL
10 74083453 frameshift variant T/- delins 1
rs1565623093
MYBPC3
11 47333209 frameshift variant G/- delins 1
rs1565623439
MYBPC3
11 47333627 frameshift variant TGAAT/- del 1
rs1565623713
MYBPC3
11 47333996 frameshift variant -/A delins 1
rs1565626367
MYBPC3
11 47339656 frameshift variant -/ATAG delins 1
rs1565627110
MYBPC3
11 47341145 frameshift variant G/- del 1
rs1565627145
MYBPC3
11 47341183 frameshift variant -/C delins 1
rs1565628520
MYBPC3
11 47343585 stop gained -/GCTCACCTGGTAGGCCGGCTCCAGCTTCT delins 1
rs730880655
MYBPC3
11 47336010 frameshift variant A/- del 1
rs730880671
MYBPC3
11 47333221 frameshift variant GT/- delins 1
rs730880675
MYBPC3
11 47332823 frameshift variant ATAAAGACGG/- delins 1
rs730880689
MYBPC3
11 47343543 stop gained -/TGGTCAGCCAGTTCCA delins 1
rs730880714
MYBPC3
11 47337721 frameshift variant C/- del 1
rs730880715
MYBPC3
11 47337450 frameshift variant G/- del 1
rs730880717
MYBPC3
11 47335038 splice donor variant TCACGCAGGATCTCCT/- del 1
rs730880718
MYBPC3
11 47333553 splice donor variant CCAACAACCTGCA/- delins 1
rs730880719
MYBPC3
11 47333197 frameshift variant G/- delins 1
rs748746951
MYBPC3
11 47347857 missense variant G/A;T snv 1.7E-05 1
rs141735183
MYH7
14 23420222 stop gained C/A snv 8.2E-06 7.0E-06 1