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: rs1135401735
rs1135401735
DSP
1 1.000 0.080 6 7581241 missense variant A/G snv 0.700 0
dbSNP: rs199473097
rs199473097
SCN5A
9 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs199473119
rs199473119
SCN5A
7 0.790 0.120 3 38604035 missense variant G/A;T snv 8.4E-06; 4.2E-06 0.700 0
dbSNP: rs397514447
rs397514447
SCN5A
1 1.000 0.080 3 38562413 splice donor variant A/G snv 0.700 0
dbSNP: rs45546039
rs45546039
SCN5A
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs757532106
rs757532106
SCN5A
9 0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05 0.700 0
dbSNP: rs137854607
rs137854607
SCN5A
5 0.882 0.120 3 38554309 missense variant C/G;T snv 0.800 1.000 6 2001 2013
dbSNP: rs137854606
rs137854606
SCN5A
4 0.882 0.120 3 38604062 missense variant C/A snv 0.700 1.000 6 2001 2013
dbSNP: rs137854618
rs137854618
SCN5A
15 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.700 1.000 6 2001 2013
dbSNP: rs199473062
rs199473062
SCN5A
5 0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06 0.700 1.000 6 2001 2013
dbSNP: rs199473072
rs199473072
SCN5A
5 0.827 0.160 3 38613773 missense variant G/A snv 1.2E-05 8.4E-05 0.700 1.000 6 2001 2013
dbSNP: rs199473118
rs199473118
SCN5A
1 1.000 0.080 3 38604067 missense variant G/A snv 4.4E-06 0.700 1.000 6 2001 2013
dbSNP: rs199473153
rs199473153
SCN5A
4 0.882 0.120 3 38597737 stop gained C/A;T snv 4.0E-06 0.700 1.000 6 2001 2013
dbSNP: rs199473207
rs199473207
SCN5A
3 0.882 0.120 3 38566555 missense variant G/A snv 0.700 1.000 6 2001 2013
dbSNP: rs199473282
rs199473282
SCN5A
5 0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06 0.700 1.000 6 2001 2013
dbSNP: rs137854608
rs137854608
SCN5A
2 0.925 0.120 3 38609776 missense variant C/T snv 2.4E-05 3.5E-05 0.700 1.000 7 2001 2013