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rs80338957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338957(C;T)
Make rs80338957(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position63957427
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338957
ebirs80338957
HLIrs80338957
Exacrs80338957
Varsomers80338957
Maprs80338957
PheGenIrs80338957
hapmaprs80338957
1000 genomesrs80338957
hgdprs80338957
ensemblrs80338957
gopubmedrs80338957
geneviewrs80338957
scholarrs80338957
googlers80338957
pharmgkbrs80338957
gwascentralrs80338957
openSNPrs80338957
23andMers80338957
23andMe allrs80338957
SNP Nexus

SNPshotrs80338957
SNPdbers80338957
MSV3drs80338957
GWAS Ctlgrs80338957
Max Magnitude0
OMIM603967
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338957(T;T)
Alt rs80338957(T;T)
Reference rs80338957(C;C)
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.62034787G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006254.4, RCV000006255.4, RCV000020267.1,