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rs118192231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs118192231(-;-)
Make rs118192231(-;GCCCT)
Make rs118192231(GCCCT;GCCCT)
ReferenceGRCh38 38.1/141
Chromosome20
Position63413528
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192231
ebirs118192231
HLIrs118192231
Exacrs118192231
Varsomers118192231
Maprs118192231
PheGenIrs118192231
hapmaprs118192231
1000 genomesrs118192231
hgdprs118192231
ensemblrs118192231
gopubmedrs118192231
geneviewrs118192231
scholarrs118192231
googlers118192231
pharmgkbrs118192231
gwascentralrs118192231
openSNPrs118192231
23andMers118192231
23andMe allrs118192231
SNP Nexus

SNPshotrs118192231
SNPdbers118192231
MSV3drs118192231
GWAS Ctlgrs118192231
Max Magnitude0
OMIM602235
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118192231(GCCCT;GCCCT)
Alt rs118192231(GCCCT;GCCCT)
Reference rs118192231(;)
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.62044881_62044882insAGGGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007808.3,