rs587783896

Orientation

plus

Stabilized

plus

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

Make rs587783896(C;G)

Make rs587783896(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36985273

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783896
dbSNP (classic)	rs587783896
ClinGen	rs587783896
ebi	rs587783896
HLI	rs587783896
Exac	rs587783896
Gnomad	rs587783896
Varsome	rs587783896
LitVar	rs587783896
Map	rs587783896
PheGenI	rs587783896
Biobank	rs587783896
1000 genomes	rs587783896
hgdp	rs587783896
ensembl	rs587783896
geneview	rs587783896
scholar	rs587783896
google	rs587783896
pharmgkb	rs587783896
gwascentral	rs587783896
openSNP	rs587783896
23andMe	rs587783896
SNPshot	rs587783896
SNPdbe	rs587783896
MSV3d	rs587783896
GWAS Ctlg	rs587783896

Max Magnitude

0

ClinVar
Risk	rs587783896(G;G)
Alt	rs587783896(G;G)
Reference	Rs587783896(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.36985375C>G
CLNSRC
CLNACC	RCV000146535.1,