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rs121434313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434313(C;T)
Make rs121434313(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position38299410
GeneSPRED1
is asnp
is mentioned by
dbSNPrs121434313
ebirs121434313
HLIrs121434313
Exacrs121434313
Varsomers121434313
Maprs121434313
PheGenIrs121434313
hapmaprs121434313
1000 genomesrs121434313
hgdprs121434313
ensemblrs121434313
gopubmedrs121434313
geneviewrs121434313
scholarrs121434313
googlers121434313
pharmgkbrs121434313
gwascentralrs121434313
openSNPrs121434313
23andMers121434313
23andMe allrs121434313
SNP Nexus

SNPshotrs121434313
SNPdbers121434313
MSV3drs121434313
GWAS Ctlgrs121434313
Max Magnitude0
OMIM609291
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434313(T;T)
Alt rs121434313(T;T)
Reference rs121434313(C;C)
Significance Pathogenic
Disease Legius syndrome
Variation info
Gene SPRED1
CLNDBN Legius syndrome
Reversed 0
HGVS NC_000015.9:g.38591611C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001883.3,