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rs118192222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs118192222(-;-)
Make rs118192222(-;AA)
ReferenceGRCh38 38.1/141
Chromosome20
Position63428391
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192222
ebirs118192222
HLIrs118192222
Exacrs118192222
Varsomers118192222
Maprs118192222
PheGenIrs118192222
hapmaprs118192222
1000 genomesrs118192222
hgdprs118192222
ensemblrs118192222
gopubmedrs118192222
geneviewrs118192222
scholarrs118192222
googlers118192222
pharmgkbrs118192222
gwascentralrs118192222
openSNPrs118192222
23andMers118192222
23andMe allrs118192222
SNP Nexus

SNPshotrs118192222
SNPdbers118192222
MSV3drs118192222
GWAS Ctlgrs118192222
Max Magnitude0
ClinVar
Risk rs118192222(;)
Alt rs118192222(;)
Reference rs118192222(AA;AA)
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.62059744_62059745delTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020967.1,


OMIM121200
Desc
Variant
Relatedalso