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rs199473222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 5 Romano-Ward Long QT Syndrome
Make rs199473222(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38560416
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473222
dbSNP (classic)rs199473222
ClinGenrs199473222
ebirs199473222
HLIrs199473222
Exacrs199473222
Gnomadrs199473222
Varsomers199473222
LitVarrs199473222
Maprs199473222
PheGenIrs199473222
Biobankrs199473222
1000 genomesrs199473222
hgdprs199473222
ensemblrs199473222
geneviewrs199473222
scholarrs199473222
googlers199473222
pharmgkbrs199473222
gwascentralrs199473222
openSNPrs199473222
23andMers199473222
SNPshotrs199473222
SNPdbers199473222
MSV3drs199473222
GWAS Ctlgrs199473222
Max Magnitude5
ClinVar
Risk rs199473222(T;T)
Alt rs199473222(T;T)
Reference Rs199473222(G;G)
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.38601907C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000058619.3, RCV000183188.1,