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rs118192230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCCCTGCGAGTTTG;CCCCTGCGAGTTTG) 0 common in clinvar
Make rs118192230(-;-)
Make rs118192230(-;CCCCTGCGAGTTTG)
ReferenceGRCh38 38.1/142
Chromosome20
Position63414137
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192230
ebirs118192230
HLIrs118192230
Exacrs118192230
Varsomers118192230
Maprs118192230
PheGenIrs118192230
hapmaprs118192230
1000 genomesrs118192230
hgdprs118192230
ensemblrs118192230
gopubmedrs118192230
geneviewrs118192230
scholarrs118192230
googlers118192230
pharmgkbrs118192230
gwascentralrs118192230
openSNPrs118192230
23andMers118192230
23andMe allrs118192230
SNP Nexus

SNPshotrs118192230
SNPdbers118192230
MSV3drs118192230
GWAS Ctlgrs118192230
Max Magnitude0
ClinVar
Risk rs118192230(;)
Alt rs118192230(;)
Reference rs118192230(CCCCTGCGAGTTTG;CCCCTGCGAGTTTG)
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.62045490_62045503delCAAACTCGCAGGGG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020973.1,