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: rs1064794243
rs1064794243
SCN4A
5 0.851 0.200 17 63941169 missense variant A/T snv 0.010 1.000 1 2005 2005
dbSNP: rs137854601
rs137854601
SCN5A
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs199473324
rs199473324
SCN5A
2 0.925 0.120 3 38550748 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2008 2008