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rs80338778

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338778(C;G)
Make rs80338778(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position201077916
GeneCACNA1S
is asnp
is mentioned by
dbSNPrs80338778
ebirs80338778
HLIrs80338778
Exacrs80338778
Varsomers80338778
Maprs80338778
PheGenIrs80338778
hapmaprs80338778
1000 genomesrs80338778
hgdprs80338778
ensemblrs80338778
gopubmedrs80338778
geneviewrs80338778
scholarrs80338778
googlers80338778
pharmgkbrs80338778
gwascentralrs80338778
openSNPrs80338778
23andMers80338778
23andMe allrs80338778
SNP Nexus

SNPshotrs80338778
SNPdbers80338778
MSV3drs80338778
GWAS Ctlgrs80338778
Max Magnitude0
ClinVar
Risk rs80338778(G,T;G,T)
Alt rs80338778(G,T;G,T)
Reference rs80338778(C;C)
Significance Pathogenic
Disease Hypokalemic periodic paralysis 1
Variation info
Gene CACNA1S
CLNDBN Hypokalemic periodic paralysis 1
Reversed 1
HGVS NC_000001.10:g.201047044G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020093.1,


[PMID 7987325] A calcium channel mutation causing hypokalemic periodic paralysis.

[PMID 11353725] Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

[PMID 15726306OA-icon.png] Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.