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: rs6817105
rs6817105 		3 0.882 0.080 4 110784612 intergenic variant T/C snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1474925551
rs1474925551
KCNJ3
1 1.000 0.080 2 154699081 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs768138092
rs768138092
SHOX2 ; RSRC1
2 0.925 0.080 3 158105927 missense variant G/C;T snv 4.3E-06; 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs137854601
rs137854601
SCN5A
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs137854618
rs137854618
SCN5A
15 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2011 2013
dbSNP: rs199473062
rs199473062
SCN5A
5 0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs104894485
rs104894485
HCN4
4 0.882 0.080 15 73325378 missense variant C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2004 2004