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rs1801475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1801475(A;C)
Make rs1801475(C;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position63406924
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1801475
dbSNP (classic)rs1801475
ClinGenrs1801475
ebirs1801475
HLIrs1801475
Exacrs1801475
Gnomadrs1801475
Varsomers1801475
LitVarrs1801475
Maprs1801475
PheGenIrs1801475
Biobankrs1801475
1000 genomesrs1801475
hgdprs1801475
ensemblrs1801475
geneviewrs1801475
scholarrs1801475
googlers1801475
pharmgkbrs1801475
gwascentralrs1801475
openSNPrs1801475
23andMers1801475
SNPshotrs1801475
SNPdbers1801475
MSV3drs1801475
GWAS Ctlgrs1801475
GMAF0.4118
Max Magnitude0


ClinVar
Risk rs1801475(C;C)
Alt rs1801475(C;C)
Reference Rs1801475(A;A)
Significance Non-pathogenic
Disease Benign familial neonatal seizures 1 not specified KCNQ2-Related Disorders
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1 not specified KCNQ2-Related Disorders
Reversed 1
HGVS NC_000020.10:g.62038277T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000020987.1, RCV000082686.9, RCV000348446.1,