rs587784033

Orientation

plus

Stabilized

plus

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

Make rs587784033(C;T)

Make rs587784033(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37052405

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784033
dbSNP (classic)	rs587784033
ClinGen	rs587784033
ebi	rs587784033
HLI	rs587784033
Exac	rs587784033
Gnomad	rs587784033
Varsome	rs587784033
LitVar	rs587784033
Map	rs587784033
PheGenI	rs587784033
Biobank	rs587784033
1000 genomes	rs587784033
hgdp	rs587784033
ensembl	rs587784033
geneview	rs587784033
scholar	rs587784033
google	rs587784033
pharmgkb	rs587784033
gwascentral	rs587784033
openSNP	rs587784033
23andMe	rs587784033
SNPshot	rs587784033
SNPdbe	rs587784033
MSV3d	rs587784033
GWAS Ctlg	rs587784033

Max Magnitude

0

ClinVar
Risk	rs587784033(T;T)
Alt	rs587784033(T;T)
Reference	Rs587784033(C;C)
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.37052507C>T
CLNSRC
CLNACC	RCV000146714.1,