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rs80338784

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 possibility of Hypokalemic periodic paralysis
(G;G) 0 common in clinvar


Make rs80338784(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position63959278
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338784
ebirs80338784
HLIrs80338784
Exacrs80338784
Varsomers80338784
Maprs80338784
PheGenIrs80338784
hapmaprs80338784
1000 genomesrs80338784
hgdprs80338784
ensemblrs80338784
gopubmedrs80338784
geneviewrs80338784
scholarrs80338784
googlers80338784
pharmgkbrs80338784
gwascentralrs80338784
openSNPrs80338784
23andMers80338784
23andMe allrs80338784
SNP Nexus

SNPshotrs80338784
SNPdbers80338784
MSV3drs80338784
GWAS Ctlgrs80338784
Max Magnitude3
OMIM603967
Desc
Variant0015
Relatedalso
ClinVar
Risk rs80338784(A;A)
Alt rs80338784(A;A)
Reference rs80338784(G;G)
Significance Pathogenic
Disease Hypokalemic periodic paralysis Hypokalemic periodic paralysis 1 Hyperkalemic Periodic Paralysis Type 1
Variation info
Gene SCN4A
CLNDBN Hypokalemic periodic paralysis, type 2 Hypokalemic periodic paralysis 1 Hyperkalemic Periodic Paralysis Type 1
Reversed 1
HGVS NC_000017.10:g.62036638C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006274.4, RCV000020260.1, RCV000206926.1,


[PMID 10599760] A novel sodium channel mutation in a family with hypokalemic periodic paralysis.


[PMID 11102465] The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.


[PMID 15557532] SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.