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rs118192207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118192207(A;G)
Make rs118192207(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63442449
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192207
ebirs118192207
HLIrs118192207
Exacrs118192207
Varsomers118192207
Maprs118192207
PheGenIrs118192207
hapmaprs118192207
1000 genomesrs118192207
hgdprs118192207
ensemblrs118192207
gopubmedrs118192207
geneviewrs118192207
scholarrs118192207
googlers118192207
pharmgkbrs118192207
gwascentralrs118192207
openSNPrs118192207
23andMers118192207
23andMe allrs118192207
SNP Nexus

SNPshotrs118192207
SNPdbers118192207
MSV3drs118192207
GWAS Ctlgrs118192207
Max Magnitude0
ClinVar
Risk rs118192207(G;G)
Alt rs118192207(G;G)
Reference rs118192207(A;A)
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.62073802T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000021011.1,


OMIM121200
Desc
Variant
Relatedalso