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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
ebirs1801475
HLIrs1801475
Exacrs1801475
Varsomers1801475
Maprs1801475
PheGenIrs1801475
hapmaprs1801475
1000 genomesrs1801475
hgdprs1801475
ensemblrs1801475
gopubmedrs1801475
geneviewrs1801475
scholarrs1801475
googlers1801475
pharmgkbrs1801475
gwascentralrs1801475
openSNPrs1801475
23andMers1801475
23andMe allrs1801475
SNP Nexus

SNPshotrs1801475
SNPdbers1801475
MSV3drs1801475
GWAS Ctlgrs1801475
GMAF0.4118
Max Magnitude0
Venter snp
Source plos
Gene KCNQ2
allele G
frequency
sift TOLERATED
HuRef 1103643241529
Disease Association Defects in KCNQ2 are the cause of benign familial neonatal convulsions type 1 (BFNC1) (MIM:121200); also known as epilepsy, benign neonatal type 1 (EBN1). BFNC1 is an autosomal dominant form of epilepsy in the newborn that clears spontaneously after a few weeks and is followed by normal psychomotor development.



ClinVar
Risk rs1801475(C;C)
Alt rs1801475(C;C)
Reference rs1801475(A;A)
Significance Non-pathogenic
Disease Benign familial neonatal seizures 1 not specified
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1 not specified
Reversed 1
HGVS NC_000020.10:g.62038277T>G
CLNSRC ClinVar Emory University GeneDx GeneReviews
CLNACC RCV000020987.1, RCV000082686.7,



GET Evidence
KCNQ2-N780T
aa_change Asn780Thr
aa_change_short N780T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.597212
summary