rs80358364

Orientation

plus

Stabilized

plus

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

Make rs80358364(-;-)

Make rs80358364(-;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

36955599

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358364
dbSNP (classic)	rs80358364
ClinGen	rs80358364
ebi	rs80358364
HLI	rs80358364
Exac	rs80358364
Gnomad	rs80358364
Varsome	rs80358364
LitVar	rs80358364
Map	rs80358364
PheGenI	rs80358364
Biobank	rs80358364
1000 genomes	rs80358364
hgdp	rs80358364
ensembl	rs80358364
geneview	rs80358364
scholar	rs80358364
google	rs80358364
pharmgkb	rs80358364
gwascentral	rs80358364
openSNP	rs80358364
23andMe	rs80358364
SNPshot	rs80358364
SNPdbe	rs80358364
MSV3d	rs80358364
GWAS Ctlg	rs80358364

Max Magnitude

0

ClinVar
Risk	rs80358364(-;-)
Alt	rs80358364(-;-)
Reference	Rs80358364(G;G)
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.36955701delG
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000086369.3,