rs587783892

Orientation

plus

Stabilized

plus

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

Make rs587783892(C;T)

Make rs587783892(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36985065

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783892
dbSNP (classic)	rs587783892
ClinGen	rs587783892
ebi	rs587783892
HLI	rs587783892
Exac	rs587783892
Gnomad	rs587783892
Varsome	rs587783892
LitVar	rs587783892
Map	rs587783892
PheGenI	rs587783892
Biobank	rs587783892
1000 genomes	rs587783892
hgdp	rs587783892
ensembl	rs587783892
geneview	rs587783892
scholar	rs587783892
google	rs587783892
pharmgkb	rs587783892
gwascentral	rs587783892
openSNP	rs587783892
23andMe	rs587783892
SNPshot	rs587783892
SNPdbe	rs587783892
MSV3d	rs587783892
GWAS Ctlg	rs587783892

Max Magnitude

0

ClinVar
Risk	rs587783892(T;T)
Alt	rs587783892(T;T)
Reference	Rs587783892(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.36985167C>T
CLNSRC
CLNACC	RCV000146527.2,