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rs786200902

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786200902(-;-)
Make rs786200902(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position39503023
GeneDLL3
is asnp
is mentioned by
dbSNPrs786200902
ebirs786200902
HLIrs786200902
Exacrs786200902
Varsomers786200902
Maprs786200902
PheGenIrs786200902
hapmaprs786200902
1000 genomesrs786200902
hgdprs786200902
ensemblrs786200902
gopubmedrs786200902
geneviewrs786200902
scholarrs786200902
googlers786200902
pharmgkbrs786200902
gwascentralrs786200902
openSNPrs786200902
23andMers786200902
23andMe allrs786200902
SNP Nexus

SNPshotrs786200902
SNPdbers786200902
MSV3drs786200902
GWAS Ctlgrs786200902
Max Magnitude0
ClinVar
Risk rs786200902(;)
Alt rs786200902(;)
Reference rs786200902(C;C)
Significance Pathogenic
Disease Spondylocostal dysostosis 1
Variation info
Gene DLL3
CLNDBN Spondylocostal dysostosis 1, autosomal recessive
Reversed 0
HGVS NC_000019.9:g.39993663delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007234.3,