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rs796052645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796052645(A;A)
Make rs796052645(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63433869
GeneKCNQ2, LOC105372721
is asnp
is mentioned by
dbSNPrs796052645
dbSNP (classic)rs796052645
ClinGenrs796052645
ebirs796052645
HLIrs796052645
Exacrs796052645
Gnomadrs796052645
Varsomers796052645
LitVarrs796052645
Maprs796052645
PheGenIrs796052645
Biobankrs796052645
1000 genomesrs796052645
hgdprs796052645
ensemblrs796052645
geneviewrs796052645
scholarrs796052645
googlers796052645
pharmgkbrs796052645
gwascentralrs796052645
openSNPrs796052645
23andMers796052645
SNPshotrs796052645
SNPdbers796052645
MSV3drs796052645
GWAS Ctlgrs796052645
Max Magnitude0
ClinVar
Risk rs796052645(A;A)
Alt rs796052645(A;A)
Reference Rs796052645(G;G)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 7
Variation info
Gene KCNQ2
CLNDBN not provided Early infantile epileptic encephalopathy 7
Reversed 1
HGVS NC_000020.10:g.62065222C>T
CLNSRC
CLNACC RCV000187896.2, RCV000408733.1,