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rs786200903

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786200903(-;-)
Make rs786200903(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position39507385
GeneDLL3
is asnp
is mentioned by
dbSNPrs786200903
ebirs786200903
HLIrs786200903
Exacrs786200903
Varsomers786200903
Maprs786200903
PheGenIrs786200903
hapmaprs786200903
1000 genomesrs786200903
hgdprs786200903
ensemblrs786200903
gopubmedrs786200903
geneviewrs786200903
scholarrs786200903
googlers786200903
pharmgkbrs786200903
gwascentralrs786200903
openSNPrs786200903
23andMers786200903
23andMe allrs786200903
SNP Nexus

SNPshotrs786200903
SNPdbers786200903
MSV3drs786200903
GWAS Ctlgrs786200903
Max Magnitude0
ClinVar
Risk rs786200903(;)
Alt rs786200903(;)
Reference rs786200903(G;G)
Significance Pathogenic
Disease Spondylocostal dysostosis 1
Variation info
Gene DLL3
CLNDBN Spondylocostal dysostosis 1, autosomal recessive
Reversed 0
HGVS NC_000019.9:g.39998025delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007236.4,