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rs1057519617

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519617(G;T)
Make rs1057519617(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165370147
GeneSCN2A
is asnp
is mentioned by
dbSNPrs1057519617
dbSNP (old)rs1057519617
ClinGenrs1057519617
ebirs1057519617
HLIrs1057519617
Exacrs1057519617
Gnomadrs1057519617
Varsomers1057519617
Maprs1057519617
PheGenIrs1057519617
Biobankrs1057519617
1000 genomesrs1057519617
hgdprs1057519617
ensemblrs1057519617
gopubmedrs1057519617
geneviewrs1057519617
scholarrs1057519617
googlers1057519617
pharmgkbrs1057519617
gwascentralrs1057519617
openSNPrs1057519617
23andMers1057519617
23andMe allrs1057519617
SNPshotrs1057519617
SNPdbers1057519617
MSV3drs1057519617
GWAS Ctlgrs1057519617
Max Magnitude0
ClinVar
Risk rs1057519617(T;T)
Alt rs1057519617(T;T)
Reference Rs1057519617(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SCN2A
CLNDBN Mental retardation, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.166226657G>T
CLNSRC
CLNACC RCV000418127.1,