rs587783967

Orientation

plus

Stabilized

plus

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

Make rs587783967(A;A)

Make rs587783967(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37020878

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783967
dbSNP (classic)	rs587783967
ClinGen	rs587783967
ebi	rs587783967
HLI	rs587783967
Exac	rs587783967
Gnomad	rs587783967
Varsome	rs587783967
LitVar	rs587783967
Map	rs587783967
PheGenI	rs587783967
Biobank	rs587783967
1000 genomes	rs587783967
hgdp	rs587783967
ensembl	rs587783967
geneview	rs587783967
scholar	rs587783967
google	rs587783967
pharmgkb	rs587783967
gwascentral	rs587783967
openSNP	rs587783967
23andMe	rs587783967
SNPshot	rs587783967
SNPdbe	rs587783967
MSV3d	rs587783967
GWAS Ctlg	rs587783967

Max Magnitude

0

ClinVar
Risk	rs587783967(A;A)
Alt	rs587783967(A;A)
Reference	Rs587783967(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.37020980G>A
CLNSRC
CLNACC	RCV000146634.1,