Have questions? Visit https://www.reddit.com/r/SNPedia

rs118192189

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192189(-;-)
Make rs118192189(-;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position63472232
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192189
ebirs118192189
HLIrs118192189
Exacrs118192189
Varsomers118192189
Maprs118192189
PheGenIrs118192189
hapmaprs118192189
1000 genomesrs118192189
hgdprs118192189
ensemblrs118192189
gopubmedrs118192189
geneviewrs118192189
scholarrs118192189
googlers118192189
pharmgkbrs118192189
gwascentralrs118192189
openSNPrs118192189
23andMers118192189
23andMe allrs118192189
SNP Nexus

SNPshotrs118192189
SNPdbers118192189
MSV3drs118192189
GWAS Ctlgrs118192189
Max Magnitude0
ClinVar
Risk rs118192189(;)
Alt rs118192189(;)
Reference rs118192189(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.62103585delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020986.1,


OMIM121200
Desc
Variant
Relatedalso