rs587783914

Orientation

plus

Stabilized

plus

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

Make rs587783914(-;-)

Make rs587783914(-;AGAG)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36986240

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783914
dbSNP (classic)	rs587783914
ClinGen	rs587783914
ebi	rs587783914
HLI	rs587783914
Exac	rs587783914
Gnomad	rs587783914
Varsome	rs587783914
LitVar	rs587783914
Map	rs587783914
PheGenI	rs587783914
Biobank	rs587783914
1000 genomes	rs587783914
hgdp	rs587783914
ensembl	rs587783914
geneview	rs587783914
scholar	rs587783914
google	rs587783914
pharmgkb	rs587783914
gwascentral	rs587783914
openSNP	rs587783914
23andMe	rs587783914
SNPshot	rs587783914
SNPdbe	rs587783914
MSV3d	rs587783914
GWAS Ctlg	rs587783914

Max Magnitude

0

ClinVar
Risk	rs587783914(-;-)
Alt	rs587783914(-;-)
Reference	Rs587783914(AGAG;AGAG)
Significance	Pathogenic
Disease	Cornelia de Lange syndrome 1 not provided
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1 not provided
Reversed	0
HGVS	NC_000005.9:g.36986342_36986345delAGAG
CLNSRC
CLNACC	RCV000146563.1, RCV000255232.1,