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rs1057518801

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518801(C;C)
Make rs1057518801(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165130238
GeneSCN3A
is asnp
is mentioned by
dbSNPrs1057518801
dbSNP (old)rs1057518801
ClinGenrs1057518801
ebirs1057518801
HLIrs1057518801
Exacrs1057518801
Gnomadrs1057518801
Varsomers1057518801
Maprs1057518801
PheGenIrs1057518801
Biobankrs1057518801
1000 genomesrs1057518801
hgdprs1057518801
ensemblrs1057518801
gopubmedrs1057518801
geneviewrs1057518801
scholarrs1057518801
googlers1057518801
pharmgkbrs1057518801
gwascentralrs1057518801
openSNPrs1057518801
23andMers1057518801
23andMe allrs1057518801
SNPshotrs1057518801
SNPdbers1057518801
MSV3drs1057518801
GWAS Ctlgrs1057518801
Max Magnitude0
ClinVar
Risk rs1057518801(C;C)
Alt rs1057518801(C;C)
Reference Rs1057518801(T;T)
Significance Probable-Pathogenic
Disease Developmental delay Polymicrogyria not provided
Variation info
Gene SCN2A SCN3A
CLNDBN Developmental delay Polymicrogyria not provided
Reversed 1
HGVS NC_000002.11:g.165986748A>G
CLNSRC
CLNACC RCV000415038.1, RCV000494116.1,