rs587783887

Orientation

plus

Stabilized

plus

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

Make rs587783887(A;G)

Make rs587783887(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36976384

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783887
dbSNP (classic)	rs587783887
ClinGen	rs587783887
ebi	rs587783887
HLI	rs587783887
Exac	rs587783887
Gnomad	rs587783887
Varsome	rs587783887
LitVar	rs587783887
Map	rs587783887
PheGenI	rs587783887
Biobank	rs587783887
1000 genomes	rs587783887
hgdp	rs587783887
ensembl	rs587783887
geneview	rs587783887
scholar	rs587783887
google	rs587783887
pharmgkb	rs587783887
gwascentral	rs587783887
openSNP	rs587783887
23andMe	rs587783887
SNPshot	rs587783887
SNPdbe	rs587783887
MSV3d	rs587783887
GWAS Ctlg	rs587783887

Max Magnitude

0

ClinVar
Risk	rs587783887(G;G)
Alt	rs587783887(G;G)
Reference	Rs587783887(A;A)
Significance	Probable-Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.36976486A>G
CLNSRC
CLNACC	RCV000146521.1,