rs587783907

Orientation

plus

Stabilized

plus

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

Make rs587783907(C;T)

Make rs587783907(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36985680

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783907
dbSNP (classic)	rs587783907
ClinGen	rs587783907
ebi	rs587783907
HLI	rs587783907
Exac	rs587783907
Gnomad	rs587783907
Varsome	rs587783907
LitVar	rs587783907
Map	rs587783907
PheGenI	rs587783907
Biobank	rs587783907
1000 genomes	rs587783907
hgdp	rs587783907
ensembl	rs587783907
geneview	rs587783907
scholar	rs587783907
google	rs587783907
pharmgkb	rs587783907
gwascentral	rs587783907
openSNP	rs587783907
23andMe	rs587783907
SNPshot	rs587783907
SNPdbe	rs587783907
MSV3d	rs587783907
GWAS Ctlg	rs587783907

Max Magnitude

0

ClinVar
Risk	rs587783907(T;T)
Alt	rs587783907(T;T)
Reference	Rs587783907(C;C)
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.36985782C>T
CLNSRC
CLNACC	RCV000146550.1,