rs587783884

Orientation

plus

Stabilized

plus

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

Make rs587783884(C;T)

Make rs587783884(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36976279

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783884
dbSNP (classic)	rs587783884
ClinGen	rs587783884
ebi	rs587783884
HLI	rs587783884
Exac	rs587783884
Gnomad	rs587783884
Varsome	rs587783884
LitVar	rs587783884
Map	rs587783884
PheGenI	rs587783884
Biobank	rs587783884
1000 genomes	rs587783884
hgdp	rs587783884
ensembl	rs587783884
geneview	rs587783884
scholar	rs587783884
google	rs587783884
pharmgkb	rs587783884
gwascentral	rs587783884
openSNP	rs587783884
23andMe	rs587783884
SNPshot	rs587783884
SNPdbe	rs587783884
MSV3d	rs587783884
GWAS Ctlg	rs587783884

Max Magnitude

0

ClinVar
Risk	rs587783884(T;T)
Alt	rs587783884(T;T)
Reference	Rs587783884(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.36976381C>T
CLNSRC
CLNACC	RCV000146518.1,