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rs786200899

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786200899(-;-)
Make rs786200899(-;GCGGT)
Make rs786200899(GCGGT;GCGGT)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position39503008
GeneDLL3
is asnp
is mentioned by
dbSNPrs786200899
ebirs786200899
HLIrs786200899
Exacrs786200899
Varsomers786200899
Maprs786200899
PheGenIrs786200899
hapmaprs786200899
1000 genomesrs786200899
hgdprs786200899
ensemblrs786200899
gopubmedrs786200899
geneviewrs786200899
scholarrs786200899
googlers786200899
pharmgkbrs786200899
gwascentralrs786200899
openSNPrs786200899
23andMers786200899
23andMe allrs786200899
SNP Nexus

SNPshotrs786200899
SNPdbers786200899
MSV3drs786200899
GWAS Ctlgrs786200899
Max Magnitude0
ClinVar
Risk rs786200899(GCGGT;GCGGT)
Alt rs786200899(GCGGT;GCGGT)
Reference rs786200899(;)
Significance Pathogenic
Disease Spondylocostal dysostosis 1
Variation info
Gene DLL3
CLNDBN Spondylocostal dysostosis 1, autosomal recessive
Reversed 0
HGVS NC_000019.9:g.39993644_39993648dupGCGGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000007230.3,