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: rs1568523935
rs1568523935
SLC25A42
20 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
dbSNP: rs193922683
rs193922683
ABCC9
1 12 21852457 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs201217593
rs201217593
DMD
8 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
dbSNP: rs28763965
rs28763965
DSP
3 0.925 0.120 6 7580562 stop gained C/A;G;T snv 8.0E-06; 1.7E-03; 4.0E-06 0.700 0
dbSNP: rs367947846
rs367947846
MYBPC3
2 1.000 0.040 11 47346298 stop gained G/A;C snv 7.7E-05 0.700 0
dbSNP: rs368200299
rs368200299
TTN ; TTN-AS1
2 2 178620285 stop gained G/A;T snv 4.9E-06 0.700 0
dbSNP: rs371678190
rs371678190
TTN ; TTN-AS1
3 1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05 0.700 0
dbSNP: rs397516915
rs397516915
DSP
6 0.925 0.080 6 7568443 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs397516955
rs397516955
DSP
9 0.790 0.120 6 7562753 stop gained G/A snv 0.700 0
dbSNP: rs397517689
rs397517689
TTN ; TTN-AS1
5 0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs56816490
rs56816490
LMNA
4 0.925 0.120 1 156135913 stop gained G/A;T snv 0.700 0
dbSNP: rs72646846
rs72646846
TTN ; TTN-AS1
4 0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05 0.700 0
dbSNP: rs727504289
rs727504289
MYBPC3
3 0.925 0.080 11 47332932 stop gained G/A;T snv 8.3E-06; 4.1E-06 0.700 0
dbSNP: rs730880689
rs730880689
MYBPC3
1 11 47343543 stop gained -/TGGTCAGCCAGTTCCA delins 0.700 0
dbSNP: rs766265889
rs766265889
TTN ; TTN-AS1
11 0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs769665204
rs769665204
TTN ; TTN-AS1
1 2 178562076 stop gained G/A;T snv 4.1E-06 0.700 0
dbSNP: rs774316050
rs774316050
MYBPC3
2 1.000 0.040 11 47348485 stop gained G/A;C;T snv 8.1E-06 0.700 0
dbSNP: rs778127887
rs778127887
TMEM43
1 3 14141613 stop gained C/T snv 1.6E-05 3.5E-05 0.700 0
dbSNP: rs876657670
rs876657670
TTN ; TTN-AS1
2 2 178560622 stop gained C/A;T snv 0.700 0
dbSNP: rs902082118
rs902082118
CSRP3
1 11 19186266 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.780 1.000 8 2001 2019
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.060 1.000 6 2005 2019
dbSNP: rs397516373
rs397516373
TPM1
4 0.925 0.080 15 63059663 missense variant G/A snv 0.700 1.000 5 2016 2018
dbSNP: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.050 0.800 5 2009 2019
dbSNP: rs56793579
rs56793579
LMNA
5 0.851 0.240 1 156115102 missense variant C/G;T snv 0.710 1.000 3 2002 2010