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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
ebirs1110627
HLIrs1110627
Exacrs1110627
Varsomers1110627
Maprs1110627
PheGenIrs1110627
hapmaprs1110627
1000 genomesrs1110627
hgdprs1110627
ensemblrs1110627
gopubmedrs1110627
geneviewrs1110627
scholarrs1110627
googlers1110627
pharmgkbrs1110627
gwascentralrs1110627
openSNPrs1110627
23andMers1110627
23andMe allrs1110627
SNP Nexus

SNPshotrs1110627
SNPdbers1110627
MSV3drs1110627
GWAS Ctlgrs1110627
GMAF0.4063
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene DLL3
allele C
frequency 0.45
sift TOLERATED
HuRef 1103691143953
Disease Association Defects in DLL3 are the cause of about 30% of cases of autosomal recessive spondylocostal dysostosis (MIM:277300). Spondylocostal dysostosis is a term historically applied to a wide variety of radiological features that include multiple abnormal vertebral segmetation defects, but more recently has been refined to refer only to cases with contiguous involvement of more than 10 segments, with mal-alignment of at least some ribs. Mutations in four genes of the Notch signaling pathway (Dll3, MESP2, LFNG and HES7) have been shown to cause around half of all cases.



ClinVar
Risk rs1110627(G;G)
Alt rs1110627(G;G)
Reference rs1110627(A;A)
Significance Non-pathogenic
Disease Spondylocostal dysostosis 1
Variation info
Gene DLL3
CLNDBN Spondylocostal dysostosis 1, autosomal recessive
Reversed 1
HGVS NC_000019.9:g.39994711T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034281.3,



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


GET Evidence
DLL3-L218P
aa_change Leu218Pro
aa_change_short L218P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.592861
summary