rs45620037, SCN5A

N. diseases: 2
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
8 0.882 0.120 3 38613787 missense variant G/A snv 6.6E-04 6.6E-04 0.800 0
CARDIOMYOPATHY, DILATED, 1E
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
11 0.882 0.120 3 38613787 missense variant G/A snv 6.6E-04 6.6E-04 0.700 0