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rs1057518772

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518772(G;G)
Make rs1057518772(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63433860
GeneKCNQ2, LOC105372721
is asnp
is mentioned by
dbSNPrs1057518772
dbSNP (old)rs1057518772
ClinGenrs1057518772
ebirs1057518772
HLIrs1057518772
Exacrs1057518772
Gnomadrs1057518772
Varsomers1057518772
Maprs1057518772
PheGenIrs1057518772
Biobankrs1057518772
1000 genomesrs1057518772
hgdprs1057518772
ensemblrs1057518772
gopubmedrs1057518772
geneviewrs1057518772
scholarrs1057518772
googlers1057518772
pharmgkbrs1057518772
gwascentralrs1057518772
openSNPrs1057518772
23andMers1057518772
23andMe allrs1057518772
SNPshotrs1057518772
SNPdbers1057518772
MSV3drs1057518772
GWAS Ctlgrs1057518772
Max Magnitude0
ClinVar
Risk rs1057518772(C;C) rs1057518772(G;G)
Alt rs1057518772(C;C) rs1057518772(G;G)
Reference Rs1057518772(T;T)
Significance Probable-Pathogenic
Disease Intellectual disability not provided
Variation info
Gene KCNQ2
CLNDBN Intellectual disability not provided
Reversed 1
HGVS NC_000020.10:g.62065213A>C; NC_000020.10:g.62065213A>G
CLNSRC
CLNACC RCV000415407.1, RCV000478321.1,