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rs118192191

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCT;CCT) 0 common in clinvar
Make rs118192191(-;-)
Make rs118192191(-;CCT)
ReferenceGRCh38 38.1/141
Chromosome20
Position63446818
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192191
ebirs118192191
HLIrs118192191
Exacrs118192191
Varsomers118192191
Maprs118192191
PheGenIrs118192191
hapmaprs118192191
1000 genomesrs118192191
hgdprs118192191
ensemblrs118192191
gopubmedrs118192191
geneviewrs118192191
scholarrs118192191
googlers118192191
pharmgkbrs118192191
gwascentralrs118192191
openSNPrs118192191
23andMers118192191
23andMe allrs118192191
SNP Nexus

SNPshotrs118192191
SNPdbers118192191
MSV3drs118192191
GWAS Ctlgrs118192191
Max Magnitude0
ClinVar
Risk rs118192191(;)
Alt rs118192191(;)
Reference rs118192191(CCT;CCT)
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.62078171_62078173delAGG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020992.1,


OMIM121200
Desc
Variant
Relatedalso