rs587784052

Orientation

plus

Stabilized

plus

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

Make rs587784052(-;-)

Make rs587784052(-;CACAAATTGCAAGAGTAGT)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37064642

Gene	C5orf42, NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784052
dbSNP (classic)	rs587784052
ClinGen	rs587784052
ebi	rs587784052
HLI	rs587784052
Exac	rs587784052
Gnomad	rs587784052
Varsome	rs587784052
LitVar	rs587784052
Map	rs587784052
PheGenI	rs587784052
Biobank	rs587784052
1000 genomes	rs587784052
hgdp	rs587784052
ensembl	rs587784052
geneview	rs587784052
scholar	rs587784052
google	rs587784052
pharmgkb	rs587784052
gwascentral	rs587784052
openSNP	rs587784052
23andMe	rs587784052
SNPshot	rs587784052
SNPdbe	rs587784052
MSV3d	rs587784052
GWAS Ctlg	rs587784052

Max Magnitude

0

ClinVar
Risk	rs587784052(-;-)
Alt	rs587784052(-;-)
Reference	Rs587784052(CACAAATTGCAAGAGTAGT;CACAAATTGCAAGAGTAGT)
Significance	Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37064744_37064762del19
CLNSRC
CLNACC	RCV000146737.1,