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rs118192250

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192250(G;T)
Make rs118192250(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position132175457
GeneKCNQ3
is asnp
is mentioned by
dbSNPrs118192250
ebirs118192250
HLIrs118192250
Exacrs118192250
Varsomers118192250
Maprs118192250
PheGenIrs118192250
hapmaprs118192250
1000 genomesrs118192250
hgdprs118192250
ensemblrs118192250
gopubmedrs118192250
geneviewrs118192250
scholarrs118192250
googlers118192250
pharmgkbrs118192250
gwascentralrs118192250
openSNPrs118192250
23andMers118192250
23andMe allrs118192250
SNP Nexus

SNPshotrs118192250
SNPdbers118192250
MSV3drs118192250
GWAS Ctlgrs118192250
Max Magnitude0
OMIM602232
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118192250(T;T)
Alt rs118192250(T;T)
Reference rs118192250(G;G)
Significance Pathogenic
Disease Benign familial neonatal seizures 2
Variation info
Gene KCNQ3
CLNDBN Benign familial neonatal seizures 2
Reversed 1
HGVS NC_000008.10:g.133187704C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007816.3,