rs1110627

Orientation

minus

Stabilized

minus

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

Make rs1110627(A;G)

Make rs1110627(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

39504071

Gene

DLL3

is a	snp
is	mentioned by
dbSNP	rs1110627
dbSNP (classic)	rs1110627
ClinGen	rs1110627
ebi	rs1110627
HLI	rs1110627
Exac	rs1110627
Gnomad	rs1110627
Varsome	rs1110627
LitVar	rs1110627
Map	rs1110627
PheGenI	rs1110627
Biobank	rs1110627
1000 genomes	rs1110627
hgdp	rs1110627
ensembl	rs1110627
geneview	rs1110627
scholar	rs1110627
google	rs1110627
pharmgkb	rs1110627
gwascentral	rs1110627
openSNP	rs1110627
23andMe	rs1110627
SNPshot	rs1110627
SNPdbe	rs1110627
MSV3d	rs1110627
GWAS Ctlg	rs1110627

GMAF

0.4063

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs1110627(G;G)
Alt	rs1110627(G;G)
Reference	Rs1110627(A;A)
Significance	Non-pathogenic
Disease	Spondylocostal dysostosis 1 not specified Jarcho-Levin syndrome Syndactyly
Variation	info
Gene	DLL3
CLNDBN	Spondylocostal dysostosis 1, autosomal recessive not specified Jarcho-Levin syndrome Syndactyly
Reversed	1
HGVS	NC_000019.9:g.39994711T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000034281.3, RCV000250053.2, RCV000278565.1, RCV000375159.1,

[PMID 18485326] Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.