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rs80338962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338962(A;G)
Make rs80338962(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63941508
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338962
ebirs80338962
HLIrs80338962
Exacrs80338962
Varsomers80338962
Maprs80338962
PheGenIrs80338962
hapmaprs80338962
1000 genomesrs80338962
hgdprs80338962
ensemblrs80338962
gopubmedrs80338962
geneviewrs80338962
scholarrs80338962
googlers80338962
pharmgkbrs80338962
gwascentralrs80338962
openSNPrs80338962
23andMers80338962
23andMe allrs80338962
SNP Nexus

SNPshotrs80338962
SNPdbers80338962
MSV3drs80338962
GWAS Ctlgrs80338962
Max Magnitude0
OMIM603967
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338962(G;G)
Alt rs80338962(G;G)
Reference rs80338962(A;A)
Significance Pathogenic
Disease Familial hyperkalemic periodic paralysis Paramyotonia congenita/hyperkalemic periodic paralysis Hyperkalemic Periodic Paralysis Type 1
Variation info
Gene SCN4A
CLNDBN Familial hyperkalemic periodic paralysis Paramyotonia congenita/hyperkalemic periodic paralysis Hyperkalemic Periodic Paralysis Type 1
Reversed 1
HGVS NC_000017.10:g.62018868T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006256.4, RCV000006257.4, RCV000020279.1,