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rs1110627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1110627(A;G)
Make rs1110627(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position39504071
GeneDLL3
is asnp
is mentioned by
dbSNPrs1110627
dbSNP (old)rs1110627
ClinGenrs1110627
ebirs1110627
HLIrs1110627
Exacrs1110627
Gnomadrs1110627
Varsomers1110627
Maprs1110627
PheGenIrs1110627
Biobankrs1110627
1000 genomesrs1110627
hgdprs1110627
ensemblrs1110627
gopubmedrs1110627
geneviewrs1110627
scholarrs1110627
googlers1110627
pharmgkbrs1110627
gwascentralrs1110627
openSNPrs1110627
23andMers1110627
23andMe allrs1110627
SNPshotrs1110627
SNPdbers1110627
MSV3drs1110627
GWAS Ctlgrs1110627
GMAF0.4063
Max Magnitude0
? (A;A) (A;G) (G;G) 28



ClinVar
Risk rs1110627(G;G)
Alt rs1110627(G;G)
Reference Rs1110627(A;A)
Significance Non-pathogenic
Disease Spondylocostal dysostosis 1 not specified Jarcho-Levin syndrome Syndactyly
Variation info
Gene DLL3
CLNDBN Spondylocostal dysostosis 1, autosomal recessive not specified Jarcho-Levin syndrome Syndactyly
Reversed 1
HGVS NC_000019.9:g.39994711T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000034281.3, RCV000250053.2, RCV000278565.1, RCV000375159.1,



[PMID 18485326OA-icon.png] Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.