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rs199472728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472728(A;G)
Make rs199472728(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572885
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472728
ebirs199472728
HLIrs199472728
Exacrs199472728
Varsomers199472728
Maprs199472728
PheGenIrs199472728
hapmaprs199472728
1000 genomesrs199472728
hgdprs199472728
ensemblrs199472728
gopubmedrs199472728
geneviewrs199472728
scholarrs199472728
googlers199472728
pharmgkbrs199472728
gwascentralrs199472728
openSNPrs199472728
23andMers199472728
23andMe allrs199472728
SNP Nexus

SNPshotrs199472728
SNPdbers199472728
MSV3drs199472728
GWAS Ctlgrs199472728
Max Magnitude0
ClinVar
Risk rs199472728(G;G)
Alt rs199472728(G;G)
Reference rs199472728(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome SUDDEN INFANT DEATH SYNDROME not provided not specified
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome SUDDEN INFANT DEATH SYNDROME not provided not specified
Reversed 0
HGVS NC_000011.9:g.2594115A>G
CLNSRC ClinVar University of Washington
CLNACC RCV000057771.2, RCV000148546.1, RCV000182121.2, RCV000219577.1,