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rs863225046

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225046(A;A)
Make rs863225046(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position63941912
GeneSCN4A
is asnp
is mentioned by
dbSNPrs863225046
ebirs863225046
HLIrs863225046
Exacrs863225046
Varsomers863225046
Maprs863225046
PheGenIrs863225046
hapmaprs863225046
1000 genomesrs863225046
hgdprs863225046
ensemblrs863225046
gopubmedrs863225046
geneviewrs863225046
scholarrs863225046
googlers863225046
pharmgkbrs863225046
gwascentralrs863225046
openSNPrs863225046
23andMers863225046
23andMe allrs863225046
SNP Nexus

SNPshotrs863225046
SNPdbers863225046
MSV3drs863225046
GWAS Ctlgrs863225046
Max Magnitude0
ClinVar
Risk rs863225046(A;A)
Alt rs863225046(A;A)
Reference rs863225046(G;G)
Significance Pathogenic
Disease Congenital myasthenic syndrome
Variation info
Gene SCN4A
CLNDBN Congenital myasthenic syndrome, acetazolamide-responsive
Reversed 1
HGVS NC_000017.10:g.62019272C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000201212.2,