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: rs397516123
rs397516123
MYH7
1 14 23427675 missense variant G/A snv 0.700 0
dbSNP: rs397516224
rs397516224
MYH7
1 14 23432684 frameshift variant G/- delins 4.0E-06 0.700 0
dbSNP: rs397516252
rs397516252
MYH7 ; MHRT
1 14 23413832 missense variant G/C snv 0.700 0
dbSNP: rs397516253
rs397516253
MYH7 ; MHRT
1 14 23413823 missense variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs397516352
rs397516352
TNNI3
1 19 55154115 missense variant A/G snv 0.700 0
dbSNP: rs397516363
rs397516363
TPM1
1 15 63044075 missense variant G/A snv 0.700 0
dbSNP: rs397516369
rs397516369
TPM1
2 1.000 15 63057081 missense variant C/G snv 0.700 0
dbSNP: rs397516371
rs397516371
TPM1
1 15 63059611 missense variant G/C snv 0.700 0
dbSNP: rs397516373
rs397516373
TPM1
4 0.925 0.080 15 63059663 missense variant G/A snv 0.700 0
dbSNP: rs397516454
rs397516454
TNNT2
1 1 201365610 missense variant A/C snv 0.700 0
dbSNP: rs397516461
rs397516461
TNNT2
1 1 201365220 missense variant C/T snv 0.700 0
dbSNP: rs397516913
rs397516913
DSP
1 6 7567781 frameshift variant T/- delins 0.700 0
dbSNP: rs397516927
rs397516927
DSP
1 6 7577007 frameshift variant -/A delins 0.700 0
dbSNP: rs397516945
rs397516945
DSP
1 6 7559337 frameshift variant -/A ins 0.700 0
dbSNP: rs397517065
rs397517065
ACTC1 ; LOC101928174
2 15 34792471 missense variant G/A snv 0.700 0
dbSNP: rs397517071
rs397517071
ACTC1 ; LOC101928174
2 1.000 0.040 15 34792092 missense variant A/G snv 0.700 0
dbSNP: rs397517245
rs397517245
VCL
1 10 74074773 frameshift variant -/A delins 0.700 0
dbSNP: rs397517497
rs397517497
TTN
2 1.000 0.120 2 178790707 splice donor variant C/T snv 4.8E-05 5.6E-05 0.700 0
dbSNP: rs397517547
rs397517547
TTN
2 1.000 0.120 2 178782872 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs397517565
rs397517565
TTN ; TTN-AS1
1 2 178635714 frameshift variant T/- delins 0.700 0
dbSNP: rs397517576
rs397517576
TTN ; TTN-AS1
1 2 178629361 frameshift variant G/- delins 0.700 0
dbSNP: rs397517584
rs397517584
TTN ; TTN-AS1
1 2 178620451 frameshift variant AT/- del 0.700 0
dbSNP: rs397517586
rs397517586
TTN ; TTN-AS1
1 2 178618777 stop gained A/G;T snv 0.700 0
dbSNP: rs397517589
rs397517589
TTN ; TTN-AS1
1 2 178617845 stop gained G/A snv 0.700 0
dbSNP: rs397517601
rs397517601
TTN ; TTN-AS1
1 2 178611611 stop gained C/T snv 4.0E-06 0.700 0