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rs397515550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515550(A;A)
Make rs397515550(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position21971926
GeneSMS
is asnp
is mentioned by
dbSNPrs397515550
ebirs397515550
HLIrs397515550
Exacrs397515550
Varsomers397515550
Maprs397515550
PheGenIrs397515550
hapmaprs397515550
1000 genomesrs397515550
hgdprs397515550
ensemblrs397515550
gopubmedrs397515550
geneviewrs397515550
scholarrs397515550
googlers397515550
pharmgkbrs397515550
gwascentralrs397515550
openSNPrs397515550
23andMers397515550
23andMe allrs397515550
SNP Nexus

SNPshotrs397515550
SNPdbers397515550
MSV3drs397515550
GWAS Ctlgrs397515550
Max Magnitude0
ClinVar
Risk rs397515550(A;A)
Alt rs397515550(A;A)
Reference rs397515550(G;G)
Significance Pathogenic
Disease Snyder Robinson syndrome
Variation info
Gene SMS
CLNDBN Snyder Robinson syndrome
Reversed 0
HGVS NC_000023.10:g.21990044G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000055903.4,