rs587784002

Orientation

plus

Stabilized

plus

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

Make rs587784002(G;T)

Make rs587784002(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37044636

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784002
dbSNP (classic)	rs587784002
ClinGen	rs587784002
ebi	rs587784002
HLI	rs587784002
Exac	rs587784002
Gnomad	rs587784002
Varsome	rs587784002
LitVar	rs587784002
Map	rs587784002
PheGenI	rs587784002
Biobank	rs587784002
1000 genomes	rs587784002
hgdp	rs587784002
ensembl	rs587784002
geneview	rs587784002
scholar	rs587784002
google	rs587784002
pharmgkb	rs587784002
gwascentral	rs587784002
openSNP	rs587784002
23andMe	rs587784002
SNPshot	rs587784002
SNPdbe	rs587784002
MSV3d	rs587784002
GWAS Ctlg	rs587784002

Max Magnitude

0

ClinVar
Risk	rs587784002(T;T)
Alt	rs587784002(T;T)
Reference	Rs587784002(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.37044738G>T
CLNSRC
CLNACC	RCV000146677.1,