rs587783891

Orientation

plus

Stabilized

plus

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

Make rs587783891(-;-)

Make rs587783891(-;A)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36984933

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783891
dbSNP (classic)	rs587783891
ClinGen	rs587783891
ebi	rs587783891
HLI	rs587783891
Exac	rs587783891
Gnomad	rs587783891
Varsome	rs587783891
LitVar	rs587783891
Map	rs587783891
PheGenI	rs587783891
Biobank	rs587783891
1000 genomes	rs587783891
hgdp	rs587783891
ensembl	rs587783891
geneview	rs587783891
scholar	rs587783891
google	rs587783891
pharmgkb	rs587783891
gwascentral	rs587783891
openSNP	rs587783891
23andMe	rs587783891
SNPshot	rs587783891
SNPdbe	rs587783891
MSV3d	rs587783891
GWAS Ctlg	rs587783891

Max Magnitude

0

ClinVar
Risk	rs587783891(-;-)
Alt	rs587783891(-;-)
Reference	Rs587783891(A;A)
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.36985035delA
CLNSRC
CLNACC	RCV000146526.1,