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rs80338788

From SNPedia

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


Make rs80338788(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position63959269
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338788
ebirs80338788
HLIrs80338788
Exacrs80338788
Varsomers80338788
Maprs80338788
PheGenIrs80338788
hapmaprs80338788
1000 genomesrs80338788
hgdprs80338788
ensemblrs80338788
gopubmedrs80338788
geneviewrs80338788
scholarrs80338788
googlers80338788
pharmgkbrs80338788
gwascentralrs80338788
openSNPrs80338788
23andMers80338788
23andMe allrs80338788
SNP Nexus

SNPshotrs80338788
SNPdbers80338788
MSV3drs80338788
GWAS Ctlgrs80338788
Max Magnitude3
OMIM603967
Desc
Variant0016
Relatedalso
ClinVar
Risk rs80338788(A,T;A,T)
Alt rs80338788(A,T;A,T)
Reference rs80338788(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.62036629C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006275.4, RCV000020264.1, RCV000206975.1,


[PMID 10944223OA-icon.png] Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.