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rs121434317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434317(A;T)
Make rs121434317(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position38351113
GeneSPRED1
is asnp
is mentioned by
dbSNPrs121434317
ebirs121434317
HLIrs121434317
Exacrs121434317
Varsomers121434317
Maprs121434317
PheGenIrs121434317
hapmaprs121434317
1000 genomesrs121434317
hgdprs121434317
ensemblrs121434317
gopubmedrs121434317
geneviewrs121434317
scholarrs121434317
googlers121434317
pharmgkbrs121434317
gwascentralrs121434317
openSNPrs121434317
23andMers121434317
23andMe allrs121434317
SNP Nexus

SNPshotrs121434317
SNPdbers121434317
MSV3drs121434317
GWAS Ctlgrs121434317
Max Magnitude0
OMIM609291
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121434317(T;T)
Alt rs121434317(T;T)
Reference rs121434317(A;A)
Significance Pathogenic
Disease Legius syndrome
Variation info
Gene SPRED1
CLNDBN Legius syndrome
Reversed 0
HGVS NC_000015.9:g.38643314A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001888.2,