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: rs10130976
rs10130976
LOC101926933
1 1.000 0.080 14 22935497 intron variant T/A snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs365990
rs365990
MYH6
4 1.000 0.080 14 23392602 missense variant A/G snv 0.34 0.45 0.700 1.000 1 2011 2011
dbSNP: rs869025519
rs869025519
SCN5A
1 1.000 0.080 3 38606037 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs387906656
rs387906656
MYH6
6 0.807 0.120 14 23396970 missense variant G/A snv 2.1E-05 0.030 1.000 3 2011 2018
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2010 2010
dbSNP: rs199473062
rs199473062
SCN5A
5 0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06 0.010 1.000 1 2005 2005
dbSNP: rs199473556
rs199473556
SCN5A
4 0.851 0.120 3 38630342 missense variant G/A snv 0.010 1.000 1 2010 2010