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rs199473576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473576(C;T)
Make rs199473576(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38603897
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473576
ebirs199473576
HLIrs199473576
Exacrs199473576
Varsomers199473576
Maprs199473576
PheGenIrs199473576
hapmaprs199473576
1000 genomesrs199473576
hgdprs199473576
ensemblrs199473576
gopubmedrs199473576
geneviewrs199473576
scholarrs199473576
googlers199473576
pharmgkbrs199473576
gwascentralrs199473576
openSNPrs199473576
23andMers199473576
23andMe allrs199473576
SNP Nexus

SNPshotrs199473576
SNPdbers199473576
MSV3drs199473576
GWAS Ctlgrs199473576
Max Magnitude0
ClinVar
Risk rs199473576(G;G) rs199473576(T;T)
Alt rs199473576(G;G) rs199473576(T;T)
Reference Rs199473576(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000003.11:g.38645388G>A; NC_000003.11:g.38645388G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000058444.3, RCV000183172.1,