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rs750997506

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs750997506(C;C)
Make rs750997506(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165996073
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs750997506
ebirs750997506
HLIrs750997506
Exacrs750997506
Varsomers750997506
Maprs750997506
PheGenIrs750997506
hapmaprs750997506
1000 genomesrs750997506
hgdprs750997506
ensemblrs750997506
gopubmedrs750997506
geneviewrs750997506
scholarrs750997506
googlers750997506
pharmgkbrs750997506
gwascentralrs750997506
openSNPrs750997506
23andMers750997506
23andMe allrs750997506
SNP Nexus

SNPshotrs750997506
SNPdbers750997506
MSV3drs750997506
GWAS Ctlgrs750997506
Max Magnitude0
ClinVar
Risk rs750997506(A,C;A,C)
Alt rs750997506(A,C;A,C)
Reference rs750997506(G;G)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene LOC102724058 SCN1A
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000002.11:g.166852583G>C
CLNSRC
CLNACC RCV000190807.1,