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rs527236149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs527236149(C;T)
Make rs527236149(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position63947100
GeneSCN4A
is asnp
is mentioned by
dbSNPrs527236149
ebirs527236149
HLIrs527236149
Exacrs527236149
Varsomers527236149
Maprs527236149
PheGenIrs527236149
hapmaprs527236149
1000 genomesrs527236149
hgdprs527236149
ensemblrs527236149
gopubmedrs527236149
geneviewrs527236149
scholarrs527236149
googlers527236149
pharmgkbrs527236149
gwascentralrs527236149
openSNPrs527236149
23andMers527236149
23andMe allrs527236149
SNP Nexus

SNPshotrs527236149
SNPdbers527236149
MSV3drs527236149
GWAS Ctlgrs527236149
Max Magnitude0
ClinVar
Risk rs527236149(G,T;G,T)
Alt rs527236149(G,T;G,T)
Reference rs527236149(C;C)
Significance Pathogenic
Disease Hypokalemic periodic paralysis
Variation info
Gene SCN4A
CLNDBN Hypokalemic periodic paralysis, type 2
Reversed 0
HGVS NC_000017.10:g.62024460C>T
CLNSRC ClinVar
CLNACC RCV000132736.2,