rs797045756

Orientation

plus

Stabilized

plus

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

Make rs797045756(-;-)

Make rs797045756(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

36995764

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs797045756
dbSNP (classic)	rs797045756
ClinGen	rs797045756
ebi	rs797045756
HLI	rs797045756
Exac	rs797045756
Gnomad	rs797045756
Varsome	rs797045756
LitVar	rs797045756
Map	rs797045756
PheGenI	rs797045756
Biobank	rs797045756
1000 genomes	rs797045756
hgdp	rs797045756
ensembl	rs797045756
geneview	rs797045756
scholar	rs797045756
google	rs797045756
pharmgkb	rs797045756
gwascentral	rs797045756
openSNP	rs797045756
23andMe	rs797045756
SNPshot	rs797045756
SNPdbe	rs797045756
MSV3d	rs797045756
GWAS Ctlg	rs797045756

Max Magnitude

0

ClinVar
Risk	rs797045756(-;-)
Alt	rs797045756(-;-)
Reference	Rs797045756(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.36995866delC
CLNSRC
CLNACC	RCV000194051.1,