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: rs190222208
rs190222208
SOS1
2 0.925 0.160 2 39035268 missense variant G/A snv 8.0E-05 8.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs199476301
rs199476301
TPM1
6 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs199476307
rs199476307
TPM1
1 1.000 0.040 15 63044121 missense variant A/C snv 0.010 1.000 1 1996 1996
dbSNP: rs199476320
rs199476320
TPM1
3 0.925 0.040 15 63064121 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs199476322
rs199476322
TPM1
2 0.925 0.040 15 63064141 missense variant A/G snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs200631005
rs200631005
ACTN2
2 0.925 0.040 1 236751561 missense variant A/C;G snv 2.4E-05; 1.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs200754249
rs200754249
TNNT2
4 0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs201012766
rs201012766
MYBPC3
1 1.000 0.040 11 47349898 missense variant C/G;T snv 8.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs201098973
rs201098973
MYBPC3
1 1.000 0.040 11 47349782 missense variant C/A;T snv 4.2E-06; 3.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs201596087
rs201596087
MYBPC3
1 1.000 0.040 11 47341992 missense variant G/A snv 3.0E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs201786090
rs201786090
LDB3
1 1.000 0.040 10 86679433 missense variant G/A snv 3.2E-05 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs2106809
rs2106809
ACE2
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs2303510
rs2303510
FHOD3
1 1.000 0.040 18 36744128 missense variant G/A snv 0.34 0.35 0.010 1.000 1 2013 2013
dbSNP: rs267606753
rs267606753
CSRP3
1 1.000 0.040 11 19188253 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs267606979
rs267606979
PRKAG2
3 0.882 0.080 7 151560560 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs267607158
rs267607158
TTN ; TTN-AS1
4 0.851 0.040 2 178740125 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs281860503
rs281860503
HLA-B ; HLA-C
1 1.000 0.040 6 31271187 missense variant G/A;C;T snv 0.010 1.000 1 1997 1997
dbSNP: rs281860563
rs281860563
HLA-B ; HLA-C
1 1.000 0.040 6 31270363 stop gained G/A;T snv 0.010 1.000 1 1997 1997
dbSNP: rs28360451
rs28360451
P2RX7 ; LOC105370032
1 1.000 0.040 12 121165379 missense variant G/A snv 8.4E-05 4.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs28933405
rs28933405
TTN
3 0.882 0.080 2 178785999 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs2970847
rs2970847
PPARGC1A
3 0.882 0.200 4 23814301 synonymous variant T/C snv 0.84 0.86 0.010 1.000 1 2007 2007
dbSNP: rs368972037
rs368972037
PRH1 ; PRR4 ; PRH1-PRR4
2 0.925 0.080 12 10882431 missense variant G/C snv 1.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs371010069
rs371010069
ACE
1 1.000 0.040 17 63486654 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs371061770
rs371061770
MYBPC3
3 0.882 0.080 11 47333610 missense variant G/A;C snv 6.6E-05 4.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs371401403
rs371401403
MYBPC3
6 0.807 0.080 11 47335996 missense variant G/A;T snv 6.8E-05; 7.9E-05 0.010 1.000 1 2018 2018