rs587783886

Orientation

plus

Stabilized

plus

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

Make rs587783886(G;T)

Make rs587783886(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36955552

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783886
dbSNP (classic)	rs587783886
ClinGen	rs587783886
ebi	rs587783886
HLI	rs587783886
Exac	rs587783886
Gnomad	rs587783886
Varsome	rs587783886
LitVar	rs587783886
Map	rs587783886
PheGenI	rs587783886
Biobank	rs587783886
1000 genomes	rs587783886
hgdp	rs587783886
ensembl	rs587783886
geneview	rs587783886
scholar	rs587783886
google	rs587783886
pharmgkb	rs587783886
gwascentral	rs587783886
openSNP	rs587783886
23andMe	rs587783886
SNPshot	rs587783886
SNPdbe	rs587783886
MSV3d	rs587783886
GWAS Ctlg	rs587783886

Max Magnitude

0

ClinVar
Risk	rs587783886(T;T)
Alt	rs587783886(T;T)
Reference	Rs587783886(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.36955654G>T
CLNSRC
CLNACC	RCV000146520.1,