rs786200899

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs786200899(-;GCGGT)

Make rs786200899(GCGGT;GCGGT)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

39503008

Gene

DLL3

is a	snp
is	mentioned by
dbSNP	rs786200899
dbSNP (classic)	rs786200899
ClinGen	rs786200899
ebi	rs786200899
HLI	rs786200899
Exac	rs786200899
Gnomad	rs786200899
Varsome	rs786200899
LitVar	rs786200899
Map	rs786200899
PheGenI	rs786200899
Biobank	rs786200899
1000 genomes	rs786200899
hgdp	rs786200899
ensembl	rs786200899
geneview	rs786200899
scholar	rs786200899
google	rs786200899
pharmgkb	rs786200899
gwascentral	rs786200899
openSNP	rs786200899
23andMe	rs786200899
SNPshot	rs786200899
SNPdbe	rs786200899
MSV3d	rs786200899
GWAS Ctlg	rs786200899

Max Magnitude

0

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,