Disease: Cardiomyopathies
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs5443
CDCA3 ; GNB3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 36
rs4762
AGT
0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 35
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 32
rs766265889
TTN-AS1 ; TTN
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 9
rs121918090
TTR
0.790 0.240 18 31593026 missense variant G/C snv 8
rs1056892
CBR3-AS1 ; CBR3
0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 6
rs57045855
LMNA
0.882 0.040 1 156134464 missense variant A/G;T snv 6
rs56793579
LMNA
0.851 0.240 1 156115102 missense variant C/G;T snv 5
rs200536955
HSPB6 ; PROSER3
0.925 0.040 19 35756980 missense variant G/A;T snv 7.0E-04 3