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rs80338779

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 possibility of Hypokalemic periodic paralysis
Make rs80338779(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position201066283
GeneCACNA1S
is asnp
is mentioned by
dbSNPrs80338779
ebirs80338779
HLIrs80338779
Exacrs80338779
Varsomers80338779
Maprs80338779
PheGenIrs80338779
hapmaprs80338779
1000 genomesrs80338779
hgdprs80338779
ensemblrs80338779
gopubmedrs80338779
geneviewrs80338779
scholarrs80338779
googlers80338779
pharmgkbrs80338779
gwascentralrs80338779
openSNPrs80338779
23andMers80338779
23andMe allrs80338779
SNP Nexus

SNPshotrs80338779
SNPdbers80338779
MSV3drs80338779
GWAS Ctlgrs80338779
Max Magnitude3
OMIM114208
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80338779(T;T)
Alt rs80338779(T;T)
Reference rs80338779(G;G)
Significance Pathogenic
Disease Hypokalemic periodic paralysis 1
Variation info
Gene CACNA1S
CLNDBN Hypokalemic periodic paralysis 1
Reversed 1
HGVS NC_000001.10:g.201035411C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019197.24,


[PMID 18835861] Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.