rs587783947

Orientation

plus

Stabilized

plus

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

Make rs587783947(C;C)

Make rs587783947(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37008723

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783947
dbSNP (classic)	rs587783947
ClinGen	rs587783947
ebi	rs587783947
HLI	rs587783947
Exac	rs587783947
Gnomad	rs587783947
Varsome	rs587783947
LitVar	rs587783947
Map	rs587783947
PheGenI	rs587783947
Biobank	rs587783947
1000 genomes	rs587783947
hgdp	rs587783947
ensembl	rs587783947
geneview	rs587783947
scholar	rs587783947
google	rs587783947
pharmgkb	rs587783947
gwascentral	rs587783947
openSNP	rs587783947
23andMe	rs587783947
SNPshot	rs587783947
SNPdbe	rs587783947
MSV3d	rs587783947
GWAS Ctlg	rs587783947

Max Magnitude

0

ClinVar
Risk	rs587783947(C;C)
Alt	rs587783947(C;C)
Reference	Rs587783947(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.37008825G>C
CLNSRC
CLNACC	RCV000146608.1,