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rs879255280

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255280(C;T)
Make rs879255280(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position129206557
GeneSMO
is asnp
is mentioned by
dbSNPrs879255280
ebirs879255280
HLIrs879255280
Exacrs879255280
Varsomers879255280
Maprs879255280
PheGenIrs879255280
hapmaprs879255280
1000 genomesrs879255280
hgdprs879255280
ensemblrs879255280
gopubmedrs879255280
geneviewrs879255280
scholarrs879255280
googlers879255280
pharmgkbrs879255280
gwascentralrs879255280
openSNPrs879255280
23andMers879255280
23andMe allrs879255280
SNP Nexus

SNPshotrs879255280
SNPdbers879255280
MSV3drs879255280
GWAS Ctlgrs879255280
Max Magnitude0
ClinVar
Risk rs879255280(T;T)
Alt rs879255280(T;T)
Reference rs879255280(C;C)
Significance Pathogenic
Disease Craniofacial malformations
Variation info
Gene SMO
CLNDBN Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development
Reversed 0
HGVS NC_000007.13:g.128846398C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000236033.2,