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rs201868078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201868078(A;A)
Make rs201868078(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome20
Position63408524
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs201868078
dbSNP (classic)rs201868078
ClinGenrs201868078
ebirs201868078
HLIrs201868078
Exacrs201868078
Gnomadrs201868078
Varsomers201868078
LitVarrs201868078
Maprs201868078
PheGenIrs201868078
Biobankrs201868078
1000 genomesrs201868078
hgdprs201868078
ensemblrs201868078
geneviewrs201868078
scholarrs201868078
googlers201868078
pharmgkbrs201868078
gwascentralrs201868078
openSNPrs201868078
23andMers201868078
SNPshotrs201868078
SNPdbers201868078
MSV3drs201868078
GWAS Ctlgrs201868078
Max Magnitude0
ClinVar
Risk rs201868078(A;A) rs201868078(C;C)
Alt rs201868078(A;A) rs201868078(C;C)
Reference Rs201868078(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy Benign Rolandic epilepsy
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy Benign Rolandic epilepsy
Reversed 0
HGVS NC_000020.10:g.62039877G>A; NC_000020.10:g.62039877G>C
CLNSRC
CLNACC RCV000477588.1, RCV000408737.1,