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rs267607198

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607198(G;T)
Make rs267607198(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63413551
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs267607198
ebirs267607198
HLIrs267607198
Exacrs267607198
Varsomers267607198
Maprs267607198
PheGenIrs267607198
hapmaprs267607198
1000 genomesrs267607198
hgdprs267607198
ensemblrs267607198
gopubmedrs267607198
geneviewrs267607198
scholarrs267607198
googlers267607198
pharmgkbrs267607198
gwascentralrs267607198
openSNPrs267607198
23andMers267607198
23andMe allrs267607198
SNP Nexus

SNPshotrs267607198
SNPdbers267607198
MSV3drs267607198
GWAS Ctlgrs267607198
Max Magnitude0
ClinVar
Risk rs267607198(T;T)
Alt rs267607198(T;T)
Reference rs267607198(G;G)
Significance Pathogenic
Disease Benign familial neonatal seizures 1 Early infantile epileptic encephalopathy 7
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1 Early infantile epileptic encephalopathy 7
Reversed 1
HGVS NC_000020.10:g.62044904C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007813.3, RCV000023180.3,