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rs41311117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs41311117(A;G)
Make rs41311117(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38550362
GeneSCN5A
is asnp
is mentioned by
dbSNPrs41311117
dbSNP (classic)rs41311117
ClinGenrs41311117
ebirs41311117
HLIrs41311117
Exacrs41311117
Gnomadrs41311117
Varsomers41311117
LitVarrs41311117
Maprs41311117
PheGenIrs41311117
Biobankrs41311117
1000 genomesrs41311117
hgdprs41311117
ensemblrs41311117
geneviewrs41311117
scholarrs41311117
googlers41311117
pharmgkbrs41311117
gwascentralrs41311117
openSNPrs41311117
23andMers41311117
SNPshotrs41311117
SNPdbers41311117
MSV3drs41311117
GWAS Ctlgrs41311117
Max Magnitude0
ClinVar
Risk rs41311117(C;C) rs41311117(G;G) rs41311117(T;T)
Alt rs41311117(C;C) rs41311117(G;G) rs41311117(T;T)
Reference Rs41311117(A;A)
Significance Probable-non-pathogenic
Disease Congenital long QT syndrome not specified not provided Brugada syndrome Long QT syndrome Brugada syndrome 1 Long QT syndrome 3 Cardiovascular phenotype
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome not specified not provided Brugada syndrome Long QT syndrome Brugada syndrome 1 Long QT syndrome 3 Cardiovascular phenotype
Reversed 0
HGVS NC_000003.11:g.38591853A>C; NC_000003.11:g.38591853A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000058822.3, RCV000041636.3, RCV000058821.4, RCV000171818.2, RCV000202785.1, RCV000204558.3, RCV000251940.1,