Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338958

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338958(A;A)
Make rs80338958(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63945614
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338958
ebirs80338958
HLIrs80338958
Exacrs80338958
Varsomers80338958
Maprs80338958
PheGenIrs80338958
hapmaprs80338958
1000 genomesrs80338958
hgdprs80338958
ensemblrs80338958
gopubmedrs80338958
geneviewrs80338958
scholarrs80338958
googlers80338958
pharmgkbrs80338958
gwascentralrs80338958
openSNPrs80338958
23andMers80338958
23andMe allrs80338958
SNP Nexus

SNPshotrs80338958
SNPdbers80338958
MSV3drs80338958
GWAS Ctlgrs80338958
Max Magnitude0
OMIM603967
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80338958(A,T;A,T)
Alt rs80338958(A,T;A,T)
Reference rs80338958(G;G)
Significance Pathogenic
Disease Paramyotonia congenita/hyperkalemic periodic paralysis Hyperkalemic Periodic Paralysis Type 1
Variation info
Gene SCN4A
CLNDBN Paramyotonia congenita/hyperkalemic periodic paralysis Hyperkalemic Periodic Paralysis Type 1
Reversed 1
HGVS NC_000017.10:g.62022974C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006260.4, RCV000020271.1,