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rs786200900

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
(I;I) 0 common genotype
Make rs786200900(-;-)
Make rs786200900(-;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position39505303
GeneDLL3
is asnp
is mentioned by
dbSNPrs786200900
dbSNP (classic)rs786200900
ClinGenrs786200900
ebirs786200900
HLIrs786200900
Exacrs786200900
Gnomadrs786200900
Varsomers786200900
LitVarrs786200900
Maprs786200900
PheGenIrs786200900
Biobankrs786200900
1000 genomesrs786200900
hgdprs786200900
ensemblrs786200900
geneviewrs786200900
scholarrs786200900
googlers786200900
pharmgkbrs786200900
gwascentralrs786200900
openSNPrs786200900
23andMers786200900
SNPshotrs786200900
SNPdbers786200900
MSV3drs786200900
GWAS Ctlgrs786200900
Max Magnitude0
ClinVar
Risk rs786200900(-;-)
Alt rs786200900(-;-)
Reference Rs786200900(AT;AT)
Significance Pathogenic
Disease Spondylocostal dysostosis 1
Variation info
Gene DLL3
CLNDBN Spondylocostal dysostosis 1, autosomal recessive
Reversed 0
HGVS NC_000019.9:g.39995943_39995944delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000007231.3,