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rs397515552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515552(C;C)
Make rs397515552(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position21977180
GeneSMS
is asnp
is mentioned by
dbSNPrs397515552
ebirs397515552
HLIrs397515552
Exacrs397515552
Varsomers397515552
Maprs397515552
PheGenIrs397515552
hapmaprs397515552
1000 genomesrs397515552
hgdprs397515552
ensemblrs397515552
gopubmedrs397515552
geneviewrs397515552
scholarrs397515552
googlers397515552
pharmgkbrs397515552
gwascentralrs397515552
openSNPrs397515552
23andMers397515552
23andMe allrs397515552
SNP Nexus

SNPshotrs397515552
SNPdbers397515552
MSV3drs397515552
GWAS Ctlgrs397515552
Max Magnitude0
ClinVar
Risk rs397515552(C;C)
Alt rs397515552(C;C)
Reference rs397515552(T;T)
Significance Pathogenic
Disease Snyder Robinson syndrome
Variation info
Gene SMS
CLNDBN Snyder Robinson syndrome
Reversed 0
HGVS NC_000023.10:g.21995298T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055906.1,