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rs387906638

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906638(A;G)
Make rs387906638(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position69374078
GeneGFPT1
is asnp
is mentioned by
dbSNPrs387906638
ebirs387906638
HLIrs387906638
Exacrs387906638
Varsomers387906638
Maprs387906638
PheGenIrs387906638
hapmaprs387906638
1000 genomesrs387906638
hgdprs387906638
ensemblrs387906638
gopubmedrs387906638
geneviewrs387906638
scholarrs387906638
googlers387906638
pharmgkbrs387906638
gwascentralrs387906638
openSNPrs387906638
23andMers387906638
23andMe allrs387906638
SNP Nexus

SNPshotrs387906638
SNPdbers387906638
MSV3drs387906638
GWAS Ctlgrs387906638
Max Magnitude0
ClinVar
Risk rs387906638(G;G)
Alt rs387906638(G;G)
Reference rs387906638(A;A)
Significance Pathogenic
Disease Congenital myasthenic syndrome with tubular aggregates 1
Variation info
Gene GFPT1
CLNDBN Congenital myasthenic syndrome with tubular aggregates 1
Reversed 1
HGVS NC_000002.11:g.69601210T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022591.29,