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rs121434610

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434610(A;A)
Make rs121434610(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position21967312
GeneSMS
is asnp
is mentioned by
dbSNPrs121434610
dbSNP (classic)rs121434610
ClinGenrs121434610
ebirs121434610
HLIrs121434610
Exacrs121434610
Gnomadrs121434610
Varsomers121434610
LitVarrs121434610
Maprs121434610
PheGenIrs121434610
Biobankrs121434610
1000 genomesrs121434610
hgdprs121434610
ensemblrs121434610
geneviewrs121434610
scholarrs121434610
googlers121434610
pharmgkbrs121434610
gwascentralrs121434610
openSNPrs121434610
23andMers121434610
SNPshotrs121434610
SNPdbers121434610
MSV3drs121434610
GWAS Ctlgrs121434610
Max Magnitude0
OMIM300105
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434610(A;A)
Alt rs121434610(A;A)
Reference Rs121434610(G;G)
Significance Pathogenic
Disease Snyder Robinson syndrome Inborn genetic diseases not provided
Variation info
Gene SMS
CLNDBN Snyder Robinson syndrome Inborn genetic diseases not provided
Reversed 0
HGVS NC_000023.10:g.21985430G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012390.17, RCV000210586.1, RCV000414369.1,