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: rs769139957
rs769139957
ALPK3
1 15 84840691 frameshift variant C/-;CC delins 0.700 1.000 1 2017 2017
dbSNP: rs782222974
rs782222974
EMD
1 X 154379710 stop gained G/A;T snv 2.3E-05; 1.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs886037845
rs886037845
TOR1AIP1
1 1 179917932 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs886039204
rs886039204
MYH7
1 14 23423966 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1057518905
rs1057518905
DPM3
3 1 155140104 missense variant A/T snv 0.700 0
dbSNP: rs1057519457
rs1057519457
SCN1B
1 19 35033599 missense variant A/T snv 0.700 0
dbSNP: rs141735183
rs141735183
MYH7
1 14 23420222 stop gained C/A snv 8.2E-06 7.0E-06 0.700 0
dbSNP: rs148515772
rs148515772
EMD
1 X 154380902 missense variant G/A snv 8.2E-05 8.5E-05 0.700 0
dbSNP: rs1554398705
rs1554398705
FLNC
1 7 128842906 frameshift variant -/C delins 0.700 0
dbSNP: rs1555142963
rs1555142963
PKP2
1 12 32822477 frameshift variant TCCTGCTTCGACTGCCAAAACAT/- delins 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: 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