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rs121434316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434316(C;T)
Make rs121434316(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position38349476
GeneSPRED1
is asnp
is mentioned by
dbSNPrs121434316
ebirs121434316
HLIrs121434316
Exacrs121434316
Varsomers121434316
Maprs121434316
PheGenIrs121434316
hapmaprs121434316
1000 genomesrs121434316
hgdprs121434316
ensemblrs121434316
gopubmedrs121434316
geneviewrs121434316
scholarrs121434316
googlers121434316
pharmgkbrs121434316
gwascentralrs121434316
openSNPrs121434316
23andMers121434316
23andMe allrs121434316
SNP Nexus

SNPshotrs121434316
SNPdbers121434316
MSV3drs121434316
GWAS Ctlgrs121434316
Max Magnitude0
OMIM609291
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434316(T;T)
Alt rs121434316(T;T)
Reference rs121434316(C;C)
Significance Pathogenic
Disease Legius syndrome
Variation info
Gene SPRED1
CLNDBN Legius syndrome
Reversed 0
HGVS NC_000015.9:g.38641677C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001887.2,