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rs74582884

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74582884(A;A)
Make rs74582884(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position132134369
GeneKCNQ3
is asnp
is mentioned by
dbSNPrs74582884
dbSNP (classic)rs74582884
ClinGenrs74582884
ebirs74582884
HLIrs74582884
Exacrs74582884
Gnomadrs74582884
Varsomers74582884
LitVarrs74582884
Maprs74582884
PheGenIrs74582884
Biobankrs74582884
1000 genomesrs74582884
hgdprs74582884
ensemblrs74582884
geneviewrs74582884
scholarrs74582884
googlers74582884
pharmgkbrs74582884
gwascentralrs74582884
openSNPrs74582884
23andMers74582884
SNPshotrs74582884
SNPdbers74582884
MSV3drs74582884
GWAS Ctlgrs74582884
GMAF0.002296
Max Magnitude0

[PMID 23596459OA-icon.png] Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

ClinVar
Risk rs74582884(A;A) rs74582884(T;T)
Alt rs74582884(A;A) rs74582884(T;T)
Reference Rs74582884(G;G)
Significance Other
Disease Benign familial neonatal seizures 2 not specified Benign familial neonatal seizures Benign Neonatal Epilepsy
Variation info
Gene KCNQ3
CLNDBN Benign familial neonatal seizures 2 not specified Benign familial neonatal seizures Benign Neonatal Epilepsy
Reversed 0
HGVS NC_000008.10:g.133146616G>A; NC_000008.10:g.133146616G>T
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000020597.1, RCV000081107.6, RCV000290815.1, RCV000384756.1, RCV000187981.2,