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rs797045031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045031(A;G)
Make rs797045031(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position201058493
GeneCACNA1S
is asnp
is mentioned by
dbSNPrs797045031
dbSNP (classic)rs797045031
ClinGenrs797045031
ebirs797045031
HLIrs797045031
Exacrs797045031
Gnomadrs797045031
Varsomers797045031
LitVarrs797045031
Maprs797045031
PheGenIrs797045031
Biobankrs797045031
1000 genomesrs797045031
hgdprs797045031
ensemblrs797045031
geneviewrs797045031
scholarrs797045031
googlers797045031
pharmgkbrs797045031
gwascentralrs797045031
openSNPrs797045031
23andMers797045031
SNPshotrs797045031
SNPdbers797045031
MSV3drs797045031
GWAS Ctlgrs797045031
Max Magnitude0
ClinVar
Risk rs797045031(G;G)
Alt rs797045031(G;G)
Reference Rs797045031(A;A)
Significance Pathogenic
Disease Hypokalemic periodic paralysis 1
Variation info
Gene CACNA1S
CLNDBN Hypokalemic periodic paralysis 1
Reversed 1
HGVS NC_000001.10:g.201027621T>C
CLNSRC Baylor College of Medicine
CLNACC RCV000191067.1,