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rs118192221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192221(G;G)
Make rs118192221(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63431338
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192221
ebirs118192221
HLIrs118192221
Exacrs118192221
Varsomers118192221
Maprs118192221
PheGenIrs118192221
hapmaprs118192221
1000 genomesrs118192221
hgdprs118192221
ensemblrs118192221
gopubmedrs118192221
geneviewrs118192221
scholarrs118192221
googlers118192221
pharmgkbrs118192221
gwascentralrs118192221
openSNPrs118192221
23andMers118192221
23andMe allrs118192221
SNP Nexus

SNPshotrs118192221
SNPdbers118192221
MSV3drs118192221
GWAS Ctlgrs118192221
Max Magnitude0
ClinVar
Risk rs118192221(G;G)
Alt rs118192221(G;G)
Reference rs118192221(T;T)
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.62062691A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000021026.1,