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rs121434314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434314(C;T)
Make rs121434314(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position38349482
GeneSPRED1
is asnp
is mentioned by
dbSNPrs121434314
ebirs121434314
HLIrs121434314
Exacrs121434314
Varsomers121434314
Maprs121434314
PheGenIrs121434314
hapmaprs121434314
1000 genomesrs121434314
hgdprs121434314
ensemblrs121434314
gopubmedrs121434314
geneviewrs121434314
scholarrs121434314
googlers121434314
pharmgkbrs121434314
gwascentralrs121434314
openSNPrs121434314
23andMers121434314
23andMe allrs121434314
SNP Nexus

SNPshotrs121434314
SNPdbers121434314
MSV3drs121434314
GWAS Ctlgrs121434314
Max Magnitude0
OMIM609291
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434314(G,T;G,T)
Alt rs121434314(G,T;G,T)
Reference rs121434314(C;C)
Significance Pathogenic
Disease Legius syndrome
Variation info
Gene SPRED1
CLNDBN Legius syndrome
Reversed 0
HGVS NC_000015.9:g.38641683C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001885.2,