Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854618
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.800 1.000 0 2004 2013
dbSNP: rs137854607
rs137854607
SCN5A
0.882 0.120 3 38554309 missense variant C/G;T snv
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.700 0
dbSNP: rs199473071
rs199473071
SCN5A
0.925 0.120 3 38613772 missense variant C/T snv 1.7E-05 1.4E-05
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.700 0
dbSNP: rs199473097
rs199473097
SCN5A
0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.700 0
dbSNP: rs199473119
rs199473119
SCN5A
0.790 0.120 3 38604035 missense variant G/A;T snv 8.4E-06; 4.2E-06
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.700 0
dbSNP: rs397514450
rs397514450
SCN5A
0.925 0.080 3 38585926 frameshift variant -/AC delins
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.700 0
dbSNP: rs45546039
rs45546039
SCN5A
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.700 0
dbSNP: rs45563942
rs45563942
SCN5A
1.000 0.040 3 38550865 missense variant A/G snv 2.2E-04 6.4E-04
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.700 0
dbSNP: rs45620037
rs45620037
SCN5A
0.882 0.120 3 38613787 missense variant G/A snv 6.6E-04 6.6E-04
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.700 0
dbSNP: rs757532106
rs757532106
SCN5A
0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.700 0
dbSNP: rs765669597
rs765669597
SCN5A
0.851 0.120 3 38614063 stop gained A/C;T snv 4.7E-06
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.700 0