rs587784007

Orientation

plus

Stabilized

plus

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

Make rs587784007(A;A)

Make rs587784007(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37044729

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784007
dbSNP (classic)	rs587784007
ClinGen	rs587784007
ebi	rs587784007
HLI	rs587784007
Exac	rs587784007
Gnomad	rs587784007
Varsome	rs587784007
LitVar	rs587784007
Map	rs587784007
PheGenI	rs587784007
Biobank	rs587784007
1000 genomes	rs587784007
hgdp	rs587784007
ensembl	rs587784007
geneview	rs587784007
scholar	rs587784007
google	rs587784007
pharmgkb	rs587784007
gwascentral	rs587784007
openSNP	rs587784007
23andMe	rs587784007
SNPshot	rs587784007
SNPdbe	rs587784007
MSV3d	rs587784007
GWAS Ctlg	rs587784007

Max Magnitude

0

ClinVar
Risk	rs587784007(A;A)
Alt	rs587784007(A;A)
Reference	Rs587784007(G;G)
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.37044831G>A
CLNSRC
CLNACC	RCV000146683.1,