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rs118192235

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192235(A;A)
Make rs118192235(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63413471
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192235
ebirs118192235
HLIrs118192235
Exacrs118192235
Varsomers118192235
Maprs118192235
PheGenIrs118192235
hapmaprs118192235
1000 genomesrs118192235
hgdprs118192235
ensemblrs118192235
gopubmedrs118192235
geneviewrs118192235
scholarrs118192235
googlers118192235
pharmgkbrs118192235
gwascentralrs118192235
openSNPrs118192235
23andMers118192235
23andMe allrs118192235
SNP Nexus

SNPshotrs118192235
SNPdbers118192235
MSV3drs118192235
GWAS Ctlgrs118192235
Max Magnitude0
ClinVar
Risk rs118192235(A;A)
Alt rs118192235(A;A)
Reference rs118192235(G;G)
Significance Pathogenic
Disease not provided Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN not provided Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62044824C>A; NC_000020.10:g.62044824C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000187922.2, RCV000020977.1, RCV000187921.1,


OMIM121200
Desc
Variant
Relatedalso