rs587784065

Orientation

plus

Stabilized

plus

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

Make rs587784065(C;T)

Make rs587784065(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36975829

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784065
dbSNP (classic)	rs587784065
ClinGen	rs587784065
ebi	rs587784065
HLI	rs587784065
Exac	rs587784065
Gnomad	rs587784065
Varsome	rs587784065
LitVar	rs587784065
Map	rs587784065
PheGenI	rs587784065
Biobank	rs587784065
1000 genomes	rs587784065
hgdp	rs587784065
ensembl	rs587784065
geneview	rs587784065
scholar	rs587784065
google	rs587784065
pharmgkb	rs587784065
gwascentral	rs587784065
openSNP	rs587784065
23andMe	rs587784065
SNPshot	rs587784065
SNPdbe	rs587784065
MSV3d	rs587784065
GWAS Ctlg	rs587784065

Max Magnitude

0

ClinVar
Risk	rs587784065(T;T)
Alt	rs587784065(T;T)
Reference	Rs587784065(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.36975931C>T
CLNSRC
CLNACC	RCV000146751.1,