Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882050

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882050(C;T)
Make rs730882050(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position95064960
GeneALG14, LOC101928098
is asnp
is mentioned by
dbSNPrs730882050
ebirs730882050
HLIrs730882050
Exacrs730882050
Varsomers730882050
Maprs730882050
PheGenIrs730882050
hapmaprs730882050
1000 genomesrs730882050
hgdprs730882050
ensemblrs730882050
gopubmedrs730882050
geneviewrs730882050
scholarrs730882050
googlers730882050
pharmgkbrs730882050
gwascentralrs730882050
openSNPrs730882050
23andMers730882050
23andMe allrs730882050
SNP Nexus

SNPshotrs730882050
SNPdbers730882050
MSV3drs730882050
GWAS Ctlgrs730882050
Max Magnitude0
ClinVar
Risk rs730882050(T;T)
Alt rs730882050(T;T)
Reference rs730882050(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene LOC101928098 ALG14
CLNDBN Myasthenic syndrome, congenital, 15
Reversed 1
HGVS NC_000001.10:g.95530516G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000161136.5,