rs587783933

Orientation

plus

Stabilized

plus

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

Make rs587783933(G;T)

Make rs587783933(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37003348

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783933
dbSNP (classic)	rs587783933
ClinGen	rs587783933
ebi	rs587783933
HLI	rs587783933
Exac	rs587783933
Gnomad	rs587783933
Varsome	rs587783933
LitVar	rs587783933
Map	rs587783933
PheGenI	rs587783933
Biobank	rs587783933
1000 genomes	rs587783933
hgdp	rs587783933
ensembl	rs587783933
geneview	rs587783933
scholar	rs587783933
google	rs587783933
pharmgkb	rs587783933
gwascentral	rs587783933
openSNP	rs587783933
23andMe	rs587783933
SNPshot	rs587783933
SNPdbe	rs587783933
MSV3d	rs587783933
GWAS Ctlg	rs587783933

Max Magnitude

0

ClinVar
Risk	rs587783933(T;T)
Alt	rs587783933(T;T)
Reference	Rs587783933(G;G)
Significance	Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37003450G>T
CLNSRC
CLNACC	RCV000146590.1,