Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894828
RPL36A-HNRNPH2 ; GLA
0.882 0.160 X 101398467 missense variant C/A;T snv 3
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 2
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04 4
rs587782965
MYL2
0.882 0.080 12 110914221 missense variant G/T snv 3
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 3
rs397516408
MYL2
0.925 0.080 12 110919117 missense variant T/C snv 2
rs730880944
MYL2
1.000 0.080 12 110919144 missense variant A/G snv 1
rs879254614
LDLR
0.925 0.120 19 11105555 frameshift variant -/T ins 1
rs794729138
PLN ; CEP85L
1.000 0.080 6 118558982 frameshift variant -/TC delins 7.0E-06 1
rs193922649
LAMP2
0.925 0.160 X 120449063 frameshift variant T/- del 2
rs121434594
RAF1
0.827 0.160 3 12604189 missense variant G/A;C;T snv 5
rs869025501
RAF1
1.000 0.080 3 12604191 missense variant G/A snv 1
rs727505017
RAF1
0.882 0.200 3 12604201 missense variant A/G;T snv 3
rs1554401561
FLNC ; FLNC-AS1
1.000 0.080 7 128855243 missense variant G/C snv 1
rs869025431
FHL1
0.925 0.160 X 136209946 missense variant G/A;C snv 9.6E-06 2
rs199472948
KCNH2
1.000 0.080 7 150951531 missense variant C/T snv 1
rs267606977
PRKAG2
0.851 0.120 7 151560613 missense variant T/C snv 3
rs121908987
PRKAG2
0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 6
rs56851164
LMNA
1.000 0.080 1 156135940 missense variant T/A snv 5.6E-05 8.4E-05 1
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv 4
rs727504247
TNNT2
0.827 0.080 1 201359217 stop gained C/A;T snv 4.1E-06 7.0E-06 5
rs121964857
TNNT2
0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 3
rs397516482
TNNT2
1.000 0.080 1 201361286 missense variant T/A snv 7.0E-06 1
rs727504246
TNNT2
0.827 0.080 1 201363330 missense variant G/A snv 4
rs730881115
TNNT2
1.000 0.080 1 201364336 frameshift variant G/- delins 9.1E-05 1