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: rs1553742630
rs1553742630
TTN ; TTN-AS1
2 1.000 0.080 2 178633900 frameshift variant -/C ins 0.700 1.000 1 2015 2015
dbSNP: rs749838192
rs749838192
SCO2 ; NCAPH2
1 22 50524395 frameshift variant -/TGAGTCACTGCTGCATGCT ins 5.8E-04; 4.2E-06 8.9E-04 0.700 1.000 1 2010 2010
dbSNP: rs397516945
rs397516945
DSP
1 6 7559337 frameshift variant -/A ins 0.700 0
dbSNP: rs869312077
rs869312077
TTN ; TTN-AS1
1 2 178570015 frameshift variant -/T ins 0.700 0
dbSNP: rs869312082
rs869312082
TTN ; TTN-AS1
1 2 178552577 frameshift variant -/A ins 0.700 0
dbSNP: rs869312122
rs869312122
TTN ; TTN-AS1
2 1.000 0.120 2 178535516 frameshift variant -/A ins 0.700 0
dbSNP: rs876658027
rs876658027
TNNT2
1 1 201365247 missense variant GA/AC mnv 0.700 0
dbSNP: rs727504448
rs727504448
DES
2 2 219420116 frameshift variant G/- del 7.0E-06 0.700 1.000 5 2000 2012
dbSNP: rs397517915
rs397517915
LMNA
1 1 156135922 frameshift variant C/- del 0.700 1.000 2 2000 2012
dbSNP: rs397517776
rs397517776
TTN ; TTN-AS1
3 0.925 0.160 2 178539765 frameshift variant CT/- del 2.1E-05 0.700 1.000 1 2012 2012
dbSNP: rs727503552
rs727503552
TTN ; TTN-AS1
1 2 178557838 frameshift variant G/- del 0.700 1.000 1 2012 2012
dbSNP: rs727504531
rs727504531
TTN ; TTN-AS1
3 0.925 0.160 2 178573463 frameshift variant A/- del 0.700 1.000 1 2012 2012
dbSNP: rs727504851
rs727504851
TTN ; TTN-AS1
3 0.925 0.160 2 178613159 splice donor variant A/- del 1.6E-05 2.8E-05 0.700 1.000 1 2012 2012
dbSNP: rs779488376
rs779488376
VCL
1 10 74095825 frameshift variant A/- del 4.0E-05 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs1553691320
rs1553691320
TTN ; TTN-AS1
1 2 178609440 frameshift variant T/- 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: rs1554108287
rs1554108287
DSP
3 0.925 0.080 6 7580495 frameshift variant CACTG/- del 0.700 0
dbSNP: rs1557194525
rs1557194525
TAZ
3 1.000 0.120 X 154420961 frameshift variant C/- del 0.700 0
dbSNP: rs397517584
rs397517584
TTN ; TTN-AS1
1 2 178620451 frameshift variant AT/- del 0.700 0
dbSNP: rs397517633
rs397517633
TTN ; TTN-AS1
1 2 178594499 frameshift variant T/- del 7.0E-06 0.700 0
dbSNP: rs397517643
rs397517643
TTN ; TTN-AS1
3 0.925 0.160 2 178592914 frameshift variant C/- del 0.700 0
dbSNP: rs727503557
rs727503557
TTN ; TTN-AS1
1 2 178564246 frameshift variant C/- del 0.700 0
dbSNP: rs727503658
rs727503658
TTN ; TTN-AS1
1 2 178740828 frameshift variant A/- del 0.700 0
dbSNP: rs727504466
rs727504466
TTN ; TTN-AS1
2 2 178591326 frameshift variant T/- del 0.700 0
dbSNP: rs727504597
rs727504597
LAMP2
2 1.000 0.160 X 120441803 frameshift variant A/- del 0.700 0