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: rs28934573
rs28934573
TP53
28 0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs104894501
rs104894501
TPM1
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs104894505
rs104894505
TPM1
4 0.882 0.040 15 63044072 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1212453165
rs1212453165
TPM1
3 0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 0.010 1.000 1 2007 2007
dbSNP: rs199476317
rs199476317
TPM1
6 0.827 0.080 15 63062263 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs758264780
rs758264780
TPM1
4 0.882 0.040 15 63044029 frameshift variant G/- delins 0.010 1.000 1 2007 2007
dbSNP: rs1263987728
rs1263987728
MYH6
1 1.000 0.040 14 23404296 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs3218716
rs3218716
MYH7
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs397516165
rs397516165
MYH7
4 0.925 0.080 14 23424118 missense variant C/G;T snv 0.700 0
dbSNP: rs727504237
rs727504237
MYH7
3 0.882 0.080 14 23428529 missense variant G/T snv 0.700 0
dbSNP: rs121909374
rs121909374
MYBPC3
7 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 0
dbSNP: rs397516059
rs397516059
MYBPC3
5 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 0.700 0
dbSNP: rs730880603
rs730880603
MYBPC3
2 0.925 0.080 11 47332115 missense variant G/T snv 0.700 0
dbSNP: rs267607004
rs267607004
RBM20
4 0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs751261054
rs751261054
BAG3
1 1.000 0.040 10 119672583 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs869248137
rs869248137
BAG3
4 0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2018 2018
dbSNP: rs45546039
rs45546039
SCN5A
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs1417036453
rs1417036453
SCN5A
2 0.925 0.080 3 38603999 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs727504801
rs727504801
SCN5A
3 0.925 0.080 3 38560397 frameshift variant G/- delins 0.700 0
dbSNP: rs368779151
rs368779151
TTN ; TTN-AS1
1 1.000 0.040 2 178531566 missense variant T/C snv 2.4E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1131691655
rs1131691655
TTN ; TTN-AS1
1 1.000 0.040 2 178609769 stop gained G/C snv 0.700 0
dbSNP: rs1553692290
rs1553692290
TTN ; TTN-AS1
1 1.000 0.040 2 178609842 stop gained C/T snv 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: rs397517689
rs397517689
TTN ; TTN-AS1
5 0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 0.700 0