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rs199473348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473348(C;T)
Make rs199473348(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449612
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473348
dbSNP (classic)rs199473348
ClinGenrs199473348
ebirs199473348
HLIrs199473348
Exacrs199473348
Gnomadrs199473348
Varsomers199473348
LitVarrs199473348
Maprs199473348
PheGenIrs199473348
Biobankrs199473348
1000 genomesrs199473348
hgdprs199473348
ensemblrs199473348
geneviewrs199473348
scholarrs199473348
googlers199473348
pharmgkbrs199473348
gwascentralrs199473348
openSNPrs199473348
23andMers199473348
SNPshotrs199473348
SNPdbers199473348
MSV3drs199473348
GWAS Ctlgrs199473348
Max Magnitude0
ClinVar
Risk rs199473348(A;A) rs199473348(T;T)
Alt rs199473348(A;A) rs199473348(T;T)
Reference Rs199473348(C;C)
Significance Untested
Disease Congenital long QT syndrome Long QT syndrome not specified
Variation info
Gene KCNE1B KCNE1
CLNDBN Congenital long QT syndrome Long QT syndrome not specified
Reversed 1
HGVS NC_000021.8:g.35821910G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000119082.2, RCV000148516.1, RCV000455223.1,