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rs121434315

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434315(C;T)
Make rs121434315(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position38299530
GeneSPRED1
is asnp
is mentioned by
dbSNPrs121434315
ebirs121434315
HLIrs121434315
Exacrs121434315
Varsomers121434315
Maprs121434315
PheGenIrs121434315
hapmaprs121434315
1000 genomesrs121434315
hgdprs121434315
ensemblrs121434315
gopubmedrs121434315
geneviewrs121434315
scholarrs121434315
googlers121434315
pharmgkbrs121434315
gwascentralrs121434315
openSNPrs121434315
23andMers121434315
23andMe allrs121434315
SNP Nexus

SNPshotrs121434315
SNPdbers121434315
MSV3drs121434315
GWAS Ctlgrs121434315
Max Magnitude0
OMIM609291
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434315(T;T)
Alt rs121434315(T;T)
Reference rs121434315(C;C)
Significance Pathogenic
Disease Legius syndrome
Variation info
Gene SPRED1
CLNDBN Legius syndrome
Reversed 0
HGVS NC_000015.9:g.38591731C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001886.2,