Source: CLINVAR ×
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: rs137854607
rs137854607
SCN5A
3 0.882 0.120 3 38554309 missense variant C/G;T snv 0.800 1.000 0 2001 2013
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
10 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