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: rs1559469421
rs1559469421
TTN ; TTN-AS1
1 2 178577230 frameshift variant -/A delins 0.700 0
dbSNP: rs1559556267
rs1559556267
TTN ; TTN-AS1
1 2 178588040 frameshift variant CTGCA/- del 0.700 0
dbSNP: rs1559712733
rs1559712733
TTN ; TTN-AS1
1 2 178604300 splice acceptor variant CCAGATCTAGAAATTAGA/AG delins 0.700 0
dbSNP: rs1559746821
rs1559746821
TTN ; TTN-AS1
1 2 178608282 stop gained A/T snv 0.700 0
dbSNP: rs1559873786
rs1559873786
TTN ; TTN-AS1
1 2 178620846 frameshift variant GATGTAT/- delins 0.700 0
dbSNP: rs1561323791
rs1561323791
TTN ; TTN-AS1 ; LOC101927055
1 2 178779110 stop gained C/T snv 0.700 0
dbSNP: rs1561445221
rs1561445221
TTN
1 2 178792176 frameshift variant T/- delins 0.700 0
dbSNP: rs1561686893
rs1561686893
DSP
1 6 7567372 stop gained C/T snv 0.700 0
dbSNP: rs1561690319
rs1561690319
DSP
1 6 7571506 stop gained C/T snv 0.700 0
dbSNP: rs1561698362
rs1561698362
DSP
3 0.925 0.120 6 7580225 frameshift variant ATGAA/- delins 0.700 0
dbSNP: rs1561698714
rs1561698714
DSP
1 6 7580519 frameshift variant -/A delins 0.700 0
dbSNP: rs1561701721
rs1561701721
DSP
1 6 7583201 frameshift variant -/C delins 0.700 0
dbSNP: rs1561702549
rs1561702549
DSP
1 6 7583725 frameshift variant G/CT delins 0.700 0
dbSNP: rs1564526327
rs1564526327
VCL ; LOC107984244
1 10 74083453 frameshift variant T/- delins 0.700 0
dbSNP: rs1565050709
rs1565050709
CSRP3
1 11 19186268 frameshift variant G/- delins 0.700 0
dbSNP: rs1565477732
rs1565477732
ABCC9
1 12 21912871 splice donor variant C/T snv 0.700 0
dbSNP: rs1565590176
rs1565590176
PKP2
1 12 32850767 splice region variant T/A snv 0.700 0
dbSNP: rs1565590309
rs1565590309
PKP2
1 12 32850910 stop gained G/A snv 0.700 0
dbSNP: rs1565623093
rs1565623093
MYBPC3
1 11 47333209 frameshift variant G/- delins 0.700 0
dbSNP: rs1565623439
rs1565623439
MYBPC3
1 11 47333627 frameshift variant TGAAT/- del 0.700 0
dbSNP: rs1565623713
rs1565623713
MYBPC3
1 11 47333996 frameshift variant -/A delins 0.700 0
dbSNP: rs1565626367
rs1565626367
MYBPC3
1 11 47339656 frameshift variant -/ATAG delins 0.700 0
dbSNP: rs1565627110
rs1565627110
MYBPC3
1 11 47341145 frameshift variant G/- del 0.700 0
dbSNP: rs1565627145
rs1565627145
MYBPC3
1 11 47341183 frameshift variant -/C delins 0.700 0
dbSNP: rs1565628520
rs1565628520
MYBPC3
1 11 47343585 stop gained -/GCTCACCTGGTAGGCCGGCTCCAGCTTCT delins 0.700 0