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rs118192187

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGTG;GGTG) 0 common in complete genomics
(GTGG;GTGG) 0 common in clinvar
(TGGG;TGGG) 0 common in clinvar
Make rs118192187(-;-)
Make rs118192187(-;GGTG)
ReferenceGRCh38 38.1/141
Chromosome20
Position63472398
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192187
ebirs118192187
HLIrs118192187
Exacrs118192187
Varsomers118192187
Maprs118192187
PheGenIrs118192187
hapmaprs118192187
1000 genomesrs118192187
hgdprs118192187
ensemblrs118192187
gopubmedrs118192187
geneviewrs118192187
scholarrs118192187
googlers118192187
pharmgkbrs118192187
gwascentralrs118192187
openSNPrs118192187
23andMers118192187
23andMe allrs118192187
SNP Nexus

SNPshotrs118192187
SNPdbers118192187
MSV3drs118192187
GWAS Ctlgrs118192187
Max Magnitude0
ClinVar
Risk rs118192187(;)
Alt rs118192187(;)
Reference rs118192187(TGGG;TGGG)
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.62103751_62103754delCACC
CLNSRC ClinVar GeneReviews
CLNACC RCV000021006.1,


OMIM121200
Desc
Variant
Relatedalso