rs587784027

Orientation

plus

Stabilized

plus

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

Make rs587784027(A;A)

Make rs587784027(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37049302

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784027
dbSNP (classic)	rs587784027
ClinGen	rs587784027
ebi	rs587784027
HLI	rs587784027
Exac	rs587784027
Gnomad	rs587784027
Varsome	rs587784027
LitVar	rs587784027
Map	rs587784027
PheGenI	rs587784027
Biobank	rs587784027
1000 genomes	rs587784027
hgdp	rs587784027
ensembl	rs587784027
geneview	rs587784027
scholar	rs587784027
google	rs587784027
pharmgkb	rs587784027
gwascentral	rs587784027
openSNP	rs587784027
23andMe	rs587784027
SNPshot	rs587784027
SNPdbe	rs587784027
MSV3d	rs587784027
GWAS Ctlg	rs587784027

Max Magnitude

0

ClinVar
Risk	rs587784027(A;A)
Alt	rs587784027(A;A)
Reference	Rs587784027(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.37049404G>A
CLNSRC
CLNACC	RCV000146708.1,