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rs118192212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTC;TTC) 0 common in clinvar
Make rs118192212(-;-)
Make rs118192212(-;TTC)
ReferenceGRCh38 38.1/141
Chromosome20
Position63439613
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192212
ebirs118192212
HLIrs118192212
Exacrs118192212
Varsomers118192212
Maprs118192212
PheGenIrs118192212
hapmaprs118192212
1000 genomesrs118192212
hgdprs118192212
ensemblrs118192212
gopubmedrs118192212
geneviewrs118192212
scholarrs118192212
googlers118192212
pharmgkbrs118192212
gwascentralrs118192212
openSNPrs118192212
23andMers118192212
23andMe allrs118192212
SNP Nexus

SNPshotrs118192212
SNPdbers118192212
MSV3drs118192212
GWAS Ctlgrs118192212
Max Magnitude0
ClinVar
Risk rs118192212(;)
Alt rs118192212(;)
Reference rs118192212(TTC;TTC)
Significance Pathogenic
Disease Benign familial neonatal seizures 1 Seizures Early infantile epileptic encephalopathy 7
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1 Seizures Early infantile epileptic encephalopathy 7
Reversed 1
HGVS NC_000020.10:g.62070963_62070965delGAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000021016.1, RCV000194164.1, RCV000234792.1,


OMIM121200
Desc
Variant
Relatedalso