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rs786200901

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786200901(-;GACCCGTGCGCCGCGCG)
Make rs786200901(GACCCGTGCGCCGCGCG;GACCCGTGCGCCGCGCG)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position39507252
GeneDLL3
is asnp
is mentioned by
dbSNPrs786200901
ClinGenrs786200901
ebirs786200901
HLIrs786200901
Exacrs786200901
Varsomers786200901
Maprs786200901
PheGenIrs786200901
hapmaprs786200901
1000 genomesrs786200901
hgdprs786200901
ensemblrs786200901
gopubmedrs786200901
geneviewrs786200901
scholarrs786200901
googlers786200901
pharmgkbrs786200901
gwascentralrs786200901
openSNPrs786200901
23andMers786200901
23andMe allrs786200901
SNP Nexus

SNPshotrs786200901
SNPdbers786200901
MSV3drs786200901
GWAS Ctlgrs786200901
Max Magnitude0
ClinVar
Risk rs786200901(CGCGCGGACCCGTGCGC;CGCGCGGACCCGTGCGC)
Alt rs786200901(CGCGCGGACCCGTGCGC;CGCGCGGACCCGTGCGC)
Reference Rs786200901(;)
Significance Pathogenic
Disease Spondylocostal dysostosis 1
Variation info
Gene DLL3
CLNDBN Spondylocostal dysostosis 1, autosomal recessive
Reversed 0
HGVS NC_000019.9:g.39997876_39997892dup17
CLNSRC OMIM Allelic Variant
CLNACC RCV000007233.3,