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: 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: 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: rs57045855
rs57045855
LMNA
6 0.882 0.040 1 156134464 missense variant A/G;T snv 0.720 1.000 2 1999 2012
dbSNP: rs61661343
rs61661343
LMNA
4 0.851 0.040 1 156130687 missense variant T/C snv 0.720 1.000 2 1999 2019
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: rs267607578
rs267607578
LMNA
1 0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05 0.810 1.000 1 1999 2014
dbSNP: rs28933093
rs28933093
LMNA
3 0.882 0.160 1 156130741 missense variant G/A snv 0.810 1.000 1 1999 2012
dbSNP: rs56984562
rs56984562
LMNA
3 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.810 1.000 1 1999 2017
dbSNP: rs59026483
rs59026483
LMNA
5 0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 0.710 0.944 1 1999 2012
dbSNP: rs1801253
rs1801253
ADRB1
29 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.020 1.000 2 2002 2012
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: rs74315379
rs74315379
TNNT2
2 0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04 0.020 1.000 2 2003 2016
dbSNP: rs74315380
rs74315380
TNNT2
2 0.851 0.080 1 201364366 missense variant G/A;C snv 0.020 1.000 2 2003 2016
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: rs104894501
rs104894501
TPM1
4 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.040 1.000 4 2005 2013
dbSNP: rs104894505
rs104894505
TPM1
3 0.882 0.040 15 63044072 missense variant G/A snv 0.040 1.000 4 2005 2017
dbSNP: rs1212453165
rs1212453165
TPM1
3 0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 0.040 1.000 4 2005 2017