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rs199473216

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473216(A;A)
Make rs199473216(A;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position38562531
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473216
ebirs199473216
HLIrs199473216
Exacrs199473216
Varsomers199473216
Maprs199473216
PheGenIrs199473216
hapmaprs199473216
1000 genomesrs199473216
hgdprs199473216
ensemblrs199473216
gopubmedrs199473216
geneviewrs199473216
scholarrs199473216
googlers199473216
pharmgkbrs199473216
gwascentralrs199473216
openSNPrs199473216
23andMers199473216
23andMe allrs199473216
SNP Nexus

SNPshotrs199473216
SNPdbers199473216
MSV3drs199473216
GWAS Ctlgrs199473216
Max Magnitude0
ClinVar
Risk rs199473216(A,T;A,T)
Alt rs199473216(A,T;A,T)
Reference rs199473216(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not specified
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome not specified
Reversed 1
HGVS NC_000003.11:g.38604022G>T
CLNSRC ClinVar
CLNACC RCV000058608.2, RCV000221645.1,