rs137854611, SCN5A

N. diseases: 2
Source: UNIPROT ×
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.
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
217 0.882 0.120 3 38597787 missense variant G/A;C;T snv 4.0E-06 0.800 1.000 25 1998 2017
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
5 0.882 0.120 3 38597787 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 3 2001 2012