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: rs148808089
rs148808089
MYH7
4 0.882 0.080 14 23429038 missense variant G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs1553644307
rs1553644307
TTN ; TTN-AS1
3 0.925 0.160 2 178591418 stop gained T/A snv 0.700 0
dbSNP: rs1553663867
rs1553663867
TTN ; TTN-AS1
3 0.925 0.160 2 178598969 frameshift variant G/- del 0.700 0
dbSNP: rs1553707780
rs1553707780
TTN ; TTN-AS1
4 0.925 0.040 2 178616928 frameshift variant T/- del 0.700 0
dbSNP: rs1554398705
rs1554398705
FLNC
1 7 128842906 frameshift variant -/C delins 0.700 0
dbSNP: rs1555122928
rs1555122928
MYBPC3
2 1.000 0.080 11 47347434 frameshift variant C/- del 0.700 0
dbSNP: rs1555142963
rs1555142963
PKP2
1 12 32822477 frameshift variant TCCTGCTTCGACTGCCAAAACAT/- delins 0.700 0
dbSNP: rs1555144459
rs1555144459
PKP2
3 0.925 0.120 12 32841038 frameshift variant -/A delins 0.700 0
dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs1559051231
rs1559051231
TTN ; TTN-AS1
1 2 178535728 stop gained C/T snv 0.700 0
dbSNP: rs1559192617
rs1559192617
TTN ; TTN-AS1
1 2 178550977 frameshift variant CTTGTCATAAT/- delins 0.700 0
dbSNP: rs1559262463
rs1559262463
TTN ; TTN-AS1
1 2 178558000 frameshift variant A/- del 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: 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