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rs118192219

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192219(A;A)
Make rs118192219(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position63433851
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192219
ebirs118192219
HLIrs118192219
Exacrs118192219
Varsomers118192219
Maprs118192219
PheGenIrs118192219
hapmaprs118192219
1000 genomesrs118192219
hgdprs118192219
ensemblrs118192219
gopubmedrs118192219
geneviewrs118192219
scholarrs118192219
googlers118192219
pharmgkbrs118192219
gwascentralrs118192219
openSNPrs118192219
23andMers118192219
23andMe allrs118192219
SNP Nexus

SNPshotrs118192219
SNPdbers118192219
MSV3drs118192219
GWAS Ctlgrs118192219
Max Magnitude0
ClinVar
Risk rs118192219(A;A)
Alt rs118192219(A;A)
Reference rs118192219(C;C)
Significance Pathogenic
Disease Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62065204G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020965.1,


OMIM121200
Desc
Variant
Relatedalso