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rs200856070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200856070(C;C)
Make rs200856070(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position74457554
GeneKCNE3
is asnp
is mentioned by
dbSNPrs200856070
dbSNP (classic)rs200856070
ClinGenrs200856070
ebirs200856070
HLIrs200856070
Exacrs200856070
Gnomadrs200856070
Varsomers200856070
LitVarrs200856070
Maprs200856070
PheGenIrs200856070
Biobankrs200856070
1000 genomesrs200856070
hgdprs200856070
ensemblrs200856070
geneviewrs200856070
scholarrs200856070
googlers200856070
pharmgkbrs200856070
gwascentralrs200856070
openSNPrs200856070
23andMers200856070
SNPshotrs200856070
SNPdbers200856070
MSV3drs200856070
GWAS Ctlgrs200856070
Max Magnitude0
ClinVar
Risk rs200856070(C;C)
Alt rs200856070(C;C)
Reference Rs200856070(T;T)
Significance Probable-Pathogenic
Disease not provided not specified Brugada syndrome 6
Variation info
Gene KCNE3
CLNDBN not provided not specified Brugada syndrome 6
Reversed 0
HGVS NC_000011.9:g.74168599T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000114366.2, RCV000455941.1, RCV000490275.1,