rs587783984

Orientation

plus

Stabilized

plus

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

Make rs587783984(A;A)

Make rs587783984(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37026328

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783984
dbSNP (classic)	rs587783984
ClinGen	rs587783984
ebi	rs587783984
HLI	rs587783984
Exac	rs587783984
Gnomad	rs587783984
Varsome	rs587783984
LitVar	rs587783984
Map	rs587783984
PheGenI	rs587783984
Biobank	rs587783984
1000 genomes	rs587783984
hgdp	rs587783984
ensembl	rs587783984
geneview	rs587783984
scholar	rs587783984
google	rs587783984
pharmgkb	rs587783984
gwascentral	rs587783984
openSNP	rs587783984
23andMe	rs587783984
SNPshot	rs587783984
SNPdbe	rs587783984
MSV3d	rs587783984
GWAS Ctlg	rs587783984

Max Magnitude

0

ClinVar
Risk	rs587783984(A;A)
Alt	rs587783984(A;A)
Reference	Rs587783984(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.37026430G>A
CLNSRC
CLNACC	RCV000146655.1,