rs587783879

Orientation

plus

Stabilized

plus

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

Make rs587783879(A;T)

Make rs587783879(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36975964

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783879
dbSNP (classic)	rs587783879
ClinGen	rs587783879
ebi	rs587783879
HLI	rs587783879
Exac	rs587783879
Gnomad	rs587783879
Varsome	rs587783879
LitVar	rs587783879
Map	rs587783879
PheGenI	rs587783879
Biobank	rs587783879
1000 genomes	rs587783879
hgdp	rs587783879
ensembl	rs587783879
geneview	rs587783879
scholar	rs587783879
google	rs587783879
pharmgkb	rs587783879
gwascentral	rs587783879
openSNP	rs587783879
23andMe	rs587783879
SNPshot	rs587783879
SNPdbe	rs587783879
MSV3d	rs587783879
GWAS Ctlg	rs587783879

Max Magnitude

0

ClinVar
Risk	rs587783879(T;T)
Alt	rs587783879(T;T)
Reference	Rs587783879(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.36976066A>T
CLNSRC
CLNACC	RCV000146512.1,