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rs80338956

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338956(C;C)
Make rs80338956(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position63957460
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338956
ebirs80338956
HLIrs80338956
Exacrs80338956
Varsomers80338956
Maprs80338956
PheGenIrs80338956
hapmaprs80338956
1000 genomesrs80338956
hgdprs80338956
ensemblrs80338956
gopubmedrs80338956
geneviewrs80338956
scholarrs80338956
googlers80338956
pharmgkbrs80338956
gwascentralrs80338956
openSNPrs80338956
23andMers80338956
23andMe allrs80338956
SNP Nexus

SNPshotrs80338956
SNPdbers80338956
MSV3drs80338956
GWAS Ctlgrs80338956
Max Magnitude0
OMIM603967
Desc
Variant0028
Relatedalso
ClinVar
Risk rs80338956(C;C)
Alt rs80338956(C;C)
Reference rs80338956(T;T)
Significance Pathogenic
Disease Paramyotonia congenita of von Eulenburg Hyperkalemic Periodic Paralysis Type 1
Variation info
Gene SCN4A
CLNDBN Paramyotonia congenita of von Eulenburg Hyperkalemic Periodic Paralysis Type 1
Reversed 1
HGVS NC_000017.10:g.62034820A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006286.4, RCV000020266.1,