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: rs587782958
rs587782958
MYBPC3
10 0.790 0.120 11 47333552 splice region variant C/T snv 1.7E-05 0.700 0
dbSNP: rs572010627
rs572010627
MPZ
4 0.851 0.160 1 161306738 missense variant A/C;T snv 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs6795970
rs6795970
SCN10A
13 0.807 0.200 3 38725184 missense variant A/G snv 0.65 0.70 0.020 1.000 2 2010 2015
dbSNP: rs1553259662
rs1553259662
MPZ
7 0.827 0.200 1 161306821 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs60682848
rs60682848
LMNA
11 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs62636495
rs62636495
DES
4 0.925 0.200 2 219418500 missense variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs374528680
rs374528680
CACNA1C ; CACNA1C-AS1
5 0.851 0.240 12 2686216 missense variant G/A;C snv 4.0E-06; 6.0E-05 0.010 1.000 1 2016 2016