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rs121908549

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Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908549(A;G)
Make rs121908549(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63945602
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908549
ebirs121908549
HLIrs121908549
Exacrs121908549
Varsomers121908549
Maprs121908549
PheGenIrs121908549
hapmaprs121908549
1000 genomesrs121908549
hgdprs121908549
ensemblrs121908549
gopubmedrs121908549
geneviewrs121908549
scholarrs121908549
googlers121908549
pharmgkbrs121908549
gwascentralrs121908549
openSNPrs121908549
23andMers121908549
23andMe allrs121908549
SNP Nexus

SNPshotrs121908549
SNPdbers121908549
MSV3drs121908549
GWAS Ctlgrs121908549
Max Magnitude0
OMIM603967
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908549(G;G)
Alt rs121908549(G;G)
Reference rs121908549(A;A)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene SCN4A
CLNDBN Myotonia congenita, atypical, acetazolamide-responsive
Reversed 1
HGVS NC_000017.10:g.62022962T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006269.3,