rs587784003

Orientation

plus

Stabilized

plus

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

Make rs587784003(G;G)

Make rs587784003(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37044652

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784003
dbSNP (classic)	rs587784003
ClinGen	rs587784003
ebi	rs587784003
HLI	rs587784003
Exac	rs587784003
Gnomad	rs587784003
Varsome	rs587784003
LitVar	rs587784003
Map	rs587784003
PheGenI	rs587784003
Biobank	rs587784003
1000 genomes	rs587784003
hgdp	rs587784003
ensembl	rs587784003
geneview	rs587784003
scholar	rs587784003
google	rs587784003
pharmgkb	rs587784003
gwascentral	rs587784003
openSNP	rs587784003
23andMe	rs587784003
SNPshot	rs587784003
SNPdbe	rs587784003
MSV3d	rs587784003
GWAS Ctlg	rs587784003

Max Magnitude

0

ClinVar
Risk	rs587784003(G;G)
Alt	rs587784003(G;G)
Reference	Rs587784003(T;T)
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.37044754T>G
CLNSRC
CLNACC	RCV000146678.1,