rs587783883

Orientation

plus

Stabilized

plus

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

Make rs587783883(C;T)

Make rs587783883(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36976204

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783883
dbSNP (classic)	rs587783883
ClinGen	rs587783883
ebi	rs587783883
HLI	rs587783883
Exac	rs587783883
Gnomad	rs587783883
Varsome	rs587783883
LitVar	rs587783883
Map	rs587783883
PheGenI	rs587783883
Biobank	rs587783883
1000 genomes	rs587783883
hgdp	rs587783883
ensembl	rs587783883
geneview	rs587783883
scholar	rs587783883
google	rs587783883
pharmgkb	rs587783883
gwascentral	rs587783883
openSNP	rs587783883
23andMe	rs587783883
SNPshot	rs587783883
SNPdbe	rs587783883
MSV3d	rs587783883
GWAS Ctlg	rs587783883

Max Magnitude

0

ClinVar
Risk	rs587783883(T;T)
Alt	rs587783883(T;T)
Reference	Rs587783883(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.36976306C>T
CLNSRC
CLNACC	RCV000146517.1,