rs587784019

Orientation

plus

Stabilized

plus

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

Make rs587784019(-;-)

Make rs587784019(-;AAG)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37048544

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784019
dbSNP (classic)	rs587784019
ClinGen	rs587784019
ebi	rs587784019
HLI	rs587784019
Exac	rs587784019
Gnomad	rs587784019
Varsome	rs587784019
LitVar	rs587784019
Map	rs587784019
PheGenI	rs587784019
Biobank	rs587784019
1000 genomes	rs587784019
hgdp	rs587784019
ensembl	rs587784019
geneview	rs587784019
scholar	rs587784019
google	rs587784019
pharmgkb	rs587784019
gwascentral	rs587784019
openSNP	rs587784019
23andMe	rs587784019
SNPshot	rs587784019
SNPdbe	rs587784019
MSV3d	rs587784019
GWAS Ctlg	rs587784019

Max Magnitude

0

ClinVar
Risk	rs587784019(-;-)
Alt	rs587784019(-;-)
Reference	Rs587784019(AAG;AAG)
Significance	Probable-Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37048646_37048648delAAG
CLNSRC
CLNACC	RCV000146698.1,