rs587783932

Orientation

plus

Stabilized

plus

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

Make rs587783932(G;G)

Make rs587783932(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37003310

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783932
dbSNP (classic)	rs587783932
ClinGen	rs587783932
ebi	rs587783932
HLI	rs587783932
Exac	rs587783932
Gnomad	rs587783932
Varsome	rs587783932
LitVar	rs587783932
Map	rs587783932
PheGenI	rs587783932
Biobank	rs587783932
1000 genomes	rs587783932
hgdp	rs587783932
ensembl	rs587783932
geneview	rs587783932
scholar	rs587783932
google	rs587783932
pharmgkb	rs587783932
gwascentral	rs587783932
openSNP	rs587783932
23andMe	rs587783932
SNPshot	rs587783932
SNPdbe	rs587783932
MSV3d	rs587783932
GWAS Ctlg	rs587783932

Max Magnitude

0

ClinVar
Risk	rs587783932(G;G)
Alt	rs587783932(G;G)
Reference	Rs587783932(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.37003412T>G
CLNSRC
CLNACC	RCV000146588.1,