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+ Genes 1

Genes:
SCN5A,

+ Genes associated with diseases 1

Genes at Omim

SCN5A,
SCN5A Atrial fibrillation, familial, 10, 614022 (3)
Brugada syndrome 1, 601144 (3)
Cardiomyopathy, dilated, 1E, 601154 (3)
Heart block, nonprogressive, 113900 (3)
Heart block, progressive, type IA, 113900 (3)
{Sudden infant death syndrome, susceptibility to}, 272120 (3)
Long QT syndrome-3, 603830 (3)
Sick sinus syndrome 1, 608567 (3)
Ventricular fibrillation, familial, 1, 603829 (3)

Genes at Clinical Genomics Database

SCN5A,
SCN5A Atrial fibrillation, familial 10
Long QT syndrome 3
Idiopathic ventricular fibrillation
Heart block, progressive, type IA
Heart block, nonprogressive
Sick sinus syndrome 1, autosomal recessive
Cardiomyopathy, dilated, 1E
Brugada syndrome 1
Ventricular fibrillation, familial 1

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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SCN5A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs7430407
dbSNP Clinvar 		38622467 2918.77 T C PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.92312 0.92310 0.11503 None None None None None None SCN5A|0.505326843|15.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1805124
dbSNP Clinvar 		38645420 1326.77 T C PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.23043 0.23040 0.24628 1.00 0.00 -1.10 None None None None None None SCN5A|0.505326843|15.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs6599230
dbSNP Clinvar 		38674712 3980.77 T C PASS 1/1 117 SYNONYMOUS_CODING LOW None 0.78175 0.78170 0.16404 None None None None None None SCN5A|0.505326843|15.55%
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