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rs367570129

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367570129(A;A)
Make rs367570129(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position95027239
GeneALG14, LOC105378863
is asnp
is mentioned by
dbSNPrs367570129
ebirs367570129
HLIrs367570129
Exacrs367570129
Varsomers367570129
Maprs367570129
PheGenIrs367570129
hapmaprs367570129
1000 genomesrs367570129
hgdprs367570129
ensemblrs367570129
gopubmedrs367570129
geneviewrs367570129
scholarrs367570129
googlers367570129
pharmgkbrs367570129
gwascentralrs367570129
openSNPrs367570129
23andMers367570129
23andMe allrs367570129
SNP Nexus

SNPshotrs367570129
SNPdbers367570129
MSV3drs367570129
GWAS Ctlgrs367570129
Max Magnitude0
ClinVar
Risk rs367570129(A;A)
Alt rs367570129(A;A)
Reference rs367570129(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene ALG14
CLNDBN Myasthenic syndrome, congenital, 15
Reversed 0
HGVS NC_000001.10:g.95492795G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000161137.5,