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rs397515553

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515553(A;C)
Make rs397515553(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position21992634
GeneSMS
is asnp
is mentioned by
dbSNPrs397515553
ebirs397515553
HLIrs397515553
Exacrs397515553
Varsomers397515553
Maprs397515553
PheGenIrs397515553
hapmaprs397515553
1000 genomesrs397515553
hgdprs397515553
ensemblrs397515553
gopubmedrs397515553
geneviewrs397515553
scholarrs397515553
googlers397515553
pharmgkbrs397515553
gwascentralrs397515553
openSNPrs397515553
23andMers397515553
23andMe allrs397515553
SNP Nexus

SNPshotrs397515553
SNPdbers397515553
MSV3drs397515553
GWAS Ctlgrs397515553
Max Magnitude0
ClinVar
Risk rs397515553(C,G;C,G)
Alt rs397515553(C,G;C,G)
Reference rs397515553(A;A)
Significance Pathogenic
Disease Snyder Robinson syndrome
Variation info
Gene SMS
CLNDBN Snyder Robinson syndrome
Reversed 0
HGVS NC_000023.10:g.22010752A>C; NC_000023.10:g.22010752A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000055907.1, RCV000074415.16,