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rs118192200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192200(A;A)
Make rs118192200(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63444729
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192200
ebirs118192200
HLIrs118192200
Exacrs118192200
Varsomers118192200
Maprs118192200
PheGenIrs118192200
hapmaprs118192200
1000 genomesrs118192200
hgdprs118192200
ensemblrs118192200
gopubmedrs118192200
geneviewrs118192200
scholarrs118192200
googlers118192200
pharmgkbrs118192200
gwascentralrs118192200
openSNPrs118192200
23andMers118192200
23andMe allrs118192200
SNP Nexus

SNPshotrs118192200
SNPdbers118192200
MSV3drs118192200
GWAS Ctlgrs118192200
Max Magnitude0
OMIM602235
Desc
Variant0011
Relatedalso
ClinVar
Risk rs118192200(A;A)
Alt rs118192200(A;A)
Reference rs118192200(G;G)
Significance Pathogenic
Disease Seizures Benign familial neonatal seizures 1 not provided
Variation info
Gene KCNQ2
CLNDBN Seizures, benign familial neonatal, 1, and/or myokymia Benign familial neonatal seizures 1 not provided
Reversed 1
HGVS NC_000020.10:g.62076082C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007815.2, RCV000021002.1, RCV000187863.1,