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rs201322234

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201322234(A;A)
Make rs201322234(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position69363563
GeneGFPT1
is asnp
is mentioned by
dbSNPrs201322234
ebirs201322234
HLIrs201322234
Exacrs201322234
Varsomers201322234
Maprs201322234
PheGenIrs201322234
hapmaprs201322234
1000 genomesrs201322234
hgdprs201322234
ensemblrs201322234
gopubmedrs201322234
geneviewrs201322234
scholarrs201322234
googlers201322234
pharmgkbrs201322234
gwascentralrs201322234
openSNPrs201322234
23andMers201322234
23andMe allrs201322234
SNP Nexus

SNPshotrs201322234
SNPdbers201322234
MSV3drs201322234
GWAS Ctlgrs201322234
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs201322234(A;A)
Alt rs201322234(A;A)
Reference rs201322234(G;G)
Significance Pathogenic
Disease Congenital myasthenic syndrome with tubular aggregates 1
Variation info
Gene GFPT1
CLNDBN Congenital myasthenic syndrome with tubular aggregates 1
Reversed 0
HGVS NC_000002.11:g.69590695G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022587.28,