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rs527236150

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs527236150(C;T)
Make rs527236150(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position63947082
GeneSCN4A
is asnp
is mentioned by
dbSNPrs527236150
dbSNP (classic)rs527236150
ClinGenrs527236150
ebirs527236150
HLIrs527236150
Exacrs527236150
Gnomadrs527236150
Varsomers527236150
LitVarrs527236150
Maprs527236150
PheGenIrs527236150
Biobankrs527236150
1000 genomesrs527236150
hgdprs527236150
ensemblrs527236150
geneviewrs527236150
scholarrs527236150
googlers527236150
pharmgkbrs527236150
gwascentralrs527236150
openSNPrs527236150
23andMers527236150
SNPshotrs527236150
SNPdbers527236150
MSV3drs527236150
GWAS Ctlgrs527236150
Max Magnitude0
ClinVar
Risk rs527236150(T;T)
Alt rs527236150(T;T)
Reference Rs527236150(C;C)
Significance Pathogenic
Disease Hypokalemic periodic paralysis not provided
Variation info
Gene SCN4A
CLNDBN Hypokalemic periodic paralysis, type 2 not provided
Reversed 0
HGVS NC_000017.10:g.62024442C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000132737.2, RCV000254971.1,