rs587783912

Orientation

plus

Stabilized

plus

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

Make rs587783912(-;-)

Make rs587783912(-;A)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36986083

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783912
dbSNP (classic)	rs587783912
ClinGen	rs587783912
ebi	rs587783912
HLI	rs587783912
Exac	rs587783912
Gnomad	rs587783912
Varsome	rs587783912
LitVar	rs587783912
Map	rs587783912
PheGenI	rs587783912
Biobank	rs587783912
1000 genomes	rs587783912
hgdp	rs587783912
ensembl	rs587783912
geneview	rs587783912
scholar	rs587783912
google	rs587783912
pharmgkb	rs587783912
gwascentral	rs587783912
openSNP	rs587783912
23andMe	rs587783912
SNPshot	rs587783912
SNPdbe	rs587783912
MSV3d	rs587783912
GWAS Ctlg	rs587783912

Max Magnitude

0

ClinVar
Risk	rs587783912(-;-)
Alt	rs587783912(-;-)
Reference	Rs587783912(A;A)
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.36986185delA
CLNSRC
CLNACC	RCV000146560.1,