rs587783921

Orientation

plus

Stabilized

plus

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

Make rs587783921(A;A)

Make rs587783921(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37000508

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783921
dbSNP (classic)	rs587783921
ClinGen	rs587783921
ebi	rs587783921
HLI	rs587783921
Exac	rs587783921
Gnomad	rs587783921
Varsome	rs587783921
LitVar	rs587783921
Map	rs587783921
PheGenI	rs587783921
Biobank	rs587783921
1000 genomes	rs587783921
hgdp	rs587783921
ensembl	rs587783921
geneview	rs587783921
scholar	rs587783921
google	rs587783921
pharmgkb	rs587783921
gwascentral	rs587783921
openSNP	rs587783921
23andMe	rs587783921
SNPshot	rs587783921
SNPdbe	rs587783921
MSV3d	rs587783921
GWAS Ctlg	rs587783921

Max Magnitude

0

ClinVar
Risk	rs587783921(A;A)
Alt	rs587783921(A;A)
Reference	Rs587783921(G;G)
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.37000610G>A
CLNSRC
CLNACC	RCV000146575.1,