rs587784004

Orientation

plus

Stabilized

plus

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

Make rs587784004(C;C)

Make rs587784004(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37044702

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784004
dbSNP (classic)	rs587784004
ClinGen	rs587784004
ebi	rs587784004
HLI	rs587784004
Exac	rs587784004
Gnomad	rs587784004
Varsome	rs587784004
LitVar	rs587784004
Map	rs587784004
PheGenI	rs587784004
Biobank	rs587784004
1000 genomes	rs587784004
hgdp	rs587784004
ensembl	rs587784004
geneview	rs587784004
scholar	rs587784004
google	rs587784004
pharmgkb	rs587784004
gwascentral	rs587784004
openSNP	rs587784004
23andMe	rs587784004
SNPshot	rs587784004
SNPdbe	rs587784004
MSV3d	rs587784004
GWAS Ctlg	rs587784004

Max Magnitude

0

ClinVar
Risk	rs587784004(C;C)
Alt	rs587784004(C;C)
Reference	Rs587784004(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.37044804G>C
CLNSRC
CLNACC	RCV000146679.1,