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rs2297902

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2297902(C;T)
Make rs2297902(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position201065943
GeneCACNA1S
is asnp
is mentioned by
dbSNPrs2297902
dbSNP (classic)rs2297902
ClinGenrs2297902
ebirs2297902
HLIrs2297902
Exacrs2297902
Gnomadrs2297902
Varsomers2297902
LitVarrs2297902
Maprs2297902
PheGenIrs2297902
Biobankrs2297902
1000 genomesrs2297902
hgdprs2297902
ensemblrs2297902
geneviewrs2297902
scholarrs2297902
googlers2297902
pharmgkbrs2297902
gwascentralrs2297902
openSNPrs2297902
23andMers2297902
SNPshotrs2297902
SNPdbers2297902
MSV3drs2297902
GWAS Ctlgrs2297902
Max Magnitude0
? (C;C) (C;T) (T;T) 28


ClinVar
Risk rs2297902(G;G) rs2297902(T;T)
Alt rs2297902(G;G) rs2297902(T;T)
Reference Rs2297902(C;C)
Significance Pathogenic
Disease not specified Hypokalemic periodic paralysis Hypokalemic periodic paralysis 1
Variation info
Gene CACNA1S
CLNDBN not specified Hypokalemic periodic paralysis Hypokalemic periodic paralysis 1
Reversed 1
HGVS NC_000001.10:g.201035071G>A; NC_000001.10:g.201035071G>C
CLNSRC Illumina
CLNACC RCV000248838.2, RCV000298607.1, RCV000132734.2,