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rs147656110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147656110(A;A)
Make rs147656110(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position108008651
GeneSLC5A7
is asnp
is mentioned by
dbSNPrs147656110
dbSNP (classic)rs147656110
ClinGenrs147656110
ebirs147656110
HLIrs147656110
Exacrs147656110
Gnomadrs147656110
Varsomers147656110
LitVarrs147656110
Maprs147656110
PheGenIrs147656110
Biobankrs147656110
1000 genomesrs147656110
hgdprs147656110
ensemblrs147656110
geneviewrs147656110
scholarrs147656110
googlers147656110
pharmgkbrs147656110
gwascentralrs147656110
openSNPrs147656110
23andMers147656110
SNPshotrs147656110
SNPdbers147656110
MSV3drs147656110
GWAS Ctlgrs147656110
Max Magnitude0
ClinVar
Risk rs147656110(A;A)
Alt rs147656110(A;A)
Reference Rs147656110(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene SLC5A7
CLNDBN Myasthenic syndrome, congenital, 20, presynaptic
Reversed 0
HGVS NC_000002.11:g.108625107G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000256186.1,