rs587783906

Orientation

plus

Stabilized

plus

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

Make rs587783906(C;T)

Make rs587783906(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36985674

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783906
dbSNP (classic)	rs587783906
ClinGen	rs587783906
ebi	rs587783906
HLI	rs587783906
Exac	rs587783906
Gnomad	rs587783906
Varsome	rs587783906
LitVar	rs587783906
Map	rs587783906
PheGenI	rs587783906
Biobank	rs587783906
1000 genomes	rs587783906
hgdp	rs587783906
ensembl	rs587783906
geneview	rs587783906
scholar	rs587783906
google	rs587783906
pharmgkb	rs587783906
gwascentral	rs587783906
openSNP	rs587783906
23andMe	rs587783906
SNPshot	rs587783906
SNPdbe	rs587783906
MSV3d	rs587783906
GWAS Ctlg	rs587783906

Max Magnitude

0

ClinVar
Risk	rs587783906(T;T)
Alt	rs587783906(T;T)
Reference	Rs587783906(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.36985776C>T
CLNSRC
CLNACC	RCV000146549.1,