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rs1325310

From SNPedia

Orientationminus
Stabilizedminus
Make rs1325310(A;A)
Make rs1325310(A;G)
Make rs1325310(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position201110107
GeneCACNA1S
is asnp
is mentioned by
dbSNPrs1325310
dbSNP (classic)rs1325310
ClinGenrs1325310
ebirs1325310
HLIrs1325310
Exacrs1325310
Gnomadrs1325310
Varsomers1325310
LitVarrs1325310
Maprs1325310
PheGenIrs1325310
Biobankrs1325310
1000 genomesrs1325310
hgdprs1325310
ensemblrs1325310
geneviewrs1325310
scholarrs1325310
googlers1325310
pharmgkbrs1325310
gwascentralrs1325310
openSNPrs1325310
23andMers1325310
SNPshotrs1325310
SNPdbers1325310
MSV3drs1325310
GWAS Ctlgrs1325310
GMAF0.393
Max Magnitude0
? (A;A) (A;G) (G;G) 28


OMIM114208
DescTHYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO
Variant0006
Relatedalso


ClinVar
Risk rs1325310(A;A)
Alt rs1325310(A;A)
Reference rs1325310(G;G)
Significance Other
Disease Thyrotoxic periodic paralysis
Variation info
Gene CACNA1S
CLNDBN Thyrotoxic periodic paralysis
Reversed 1
HGVS NC_000001.10:g.201079235C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019195.3,