Source: BEFREE ×
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: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 < 0.001 1 1997 1997
dbSNP: rs121913002
rs121913002
DES
5 0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 0.010 1.000 1 1999 1999
dbSNP: rs267607155
rs267607155
TTN
1 0.925 0.040 2 178782980 missense variant A/G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs61672878
rs61672878
LMNA
9 0.776 0.200 1 156136094 missense variant G/A;T snv 0.020 1.000 2 2003 2003
dbSNP: rs2856655
rs2856655
MYBPC3
1 0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs730881071
rs730881071
TNNI3
2 1.000 0.040 19 55154158 missense variant G/A snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs137852764
rs137852764
CSRP3
1 1.000 0.040 11 19188211 missense variant T/C snv 2.0E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1462311598
rs1462311598
DMD
1 1.000 0.040 X 32390180 missense variant T/C snv 5.5E-06 0.010 1.000 1 2004 2004
dbSNP: rs149585781
rs149585781
PNMT ; TCAP
1 0.925 0.040 17 39666063 missense variant G/A snv 2.1E-04 2.1E-04 0.010 1.000 1 2004 2004
dbSNP: rs373850074
rs373850074
PDLIM5
1 1.000 0.040 4 94654525 missense variant A/G snv 1.2E-04 7.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs748358368
rs748358368
TCAP
1 1.000 0.040 17 39665999 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs137854618
rs137854618
SCN5A
7 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
230 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2005 2005
dbSNP: rs199476314
rs199476314
TPM1
4 0.882 0.040 15 63060930 missense variant T/G snv 0.010 1.000 1 2005 2005
dbSNP: rs121917776
rs121917776
VCL
4 0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs141638421
rs141638421
CRYAB
3 0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs267607158
rs267607158
TTN ; TTN-AS1
3 0.851 0.040 2 178740125 stop gained G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 0.500 2 1997 2007
dbSNP: rs699
rs699
AGT
131 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 0.500 2 1997 2007
dbSNP: rs145579007
rs145579007
ACE
2 0.925 0.080 17 63496503 missense variant G/A snv 1.0E-04 1.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs61726467
rs61726467
DES
2 0.882 0.160 2 219421553 stop gained G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs750712925
rs750712925
ACE
2 0.925 0.080 17 63477227 missense variant G/A;C;T snv 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs755559514
rs755559514
APLN
3 0.925 0.040 X 129648648 missense variant T/C;G snv 1.2E-05; 6.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs777846521
rs777846521
FHL2
1 1.000 0.040 2 105386375 missense variant C/G;T snv 8.0E-06; 3.2E-05 0.010 1.000 1 2007 2007