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rs121434312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434312(C;T)
Make rs121434312(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position38322382
GeneSPRED1
is asnp
is mentioned by
dbSNPrs121434312
ebirs121434312
HLIrs121434312
Exacrs121434312
Varsomers121434312
Maprs121434312
PheGenIrs121434312
hapmaprs121434312
1000 genomesrs121434312
hgdprs121434312
ensemblrs121434312
gopubmedrs121434312
geneviewrs121434312
scholarrs121434312
googlers121434312
pharmgkbrs121434312
gwascentralrs121434312
openSNPrs121434312
23andMers121434312
23andMe allrs121434312
SNP Nexus

SNPshotrs121434312
SNPdbers121434312
MSV3drs121434312
GWAS Ctlgrs121434312
Max Magnitude0
OMIM609291
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434312(T;T)
Alt rs121434312(T;T)
Reference rs121434312(C;C)
Significance Pathogenic
Disease Legius syndrome
Variation info
Gene SPRED1
CLNDBN Legius syndrome
Reversed 0
HGVS NC_000015.9:g.38614583C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001882.2,