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rs527236148

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs527236148(A;A)
Make rs527236148(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position63971201
GeneSCN4A
is asnp
is mentioned by
dbSNPrs527236148
dbSNP (classic)rs527236148
ClinGenrs527236148
ebirs527236148
HLIrs527236148
Exacrs527236148
Gnomadrs527236148
Varsomers527236148
LitVarrs527236148
Maprs527236148
PheGenIrs527236148
Biobankrs527236148
1000 genomesrs527236148
hgdprs527236148
ensemblrs527236148
geneviewrs527236148
scholarrs527236148
googlers527236148
pharmgkbrs527236148
gwascentralrs527236148
openSNPrs527236148
23andMers527236148
SNPshotrs527236148
SNPdbers527236148
MSV3drs527236148
GWAS Ctlgrs527236148
Max Magnitude0
ClinVar
Risk rs527236148(A;A)
Alt rs527236148(A;A)
Reference Rs527236148(G;G)
Significance Pathogenic
Disease Hypokalemic periodic paralysis
Variation info
Gene SCN4A
CLNDBN Hypokalemic periodic paralysis, type 2
Reversed 0
HGVS NC_000017.10:g.62048561G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000132735.2,