rs587783905

Orientation

plus

Stabilized

plus

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

Make rs587783905(C;G)

Make rs587783905(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36985669

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783905
dbSNP (classic)	rs587783905
ClinGen	rs587783905
ebi	rs587783905
HLI	rs587783905
Exac	rs587783905
Gnomad	rs587783905
Varsome	rs587783905
LitVar	rs587783905
Map	rs587783905
PheGenI	rs587783905
Biobank	rs587783905
1000 genomes	rs587783905
hgdp	rs587783905
ensembl	rs587783905
geneview	rs587783905
scholar	rs587783905
google	rs587783905
pharmgkb	rs587783905
gwascentral	rs587783905
openSNP	rs587783905
23andMe	rs587783905
SNPshot	rs587783905
SNPdbe	rs587783905
MSV3d	rs587783905
GWAS Ctlg	rs587783905

Max Magnitude

0

ClinVar
Risk	rs587783905(G;G) rs587783905(T;T)
Alt	rs587783905(G;G) rs587783905(T;T)
Reference	Rs587783905(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.36985771C>G
CLNSRC
CLNACC	RCV000146548.1,