rs80358378

Orientation

plus

Stabilized

plus

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

Make rs80358378(A;A)

Make rs80358378(A;G)

Reference

GRCh38 38.1/142

Chromosome

5

Position

37003352

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358378
dbSNP (classic)	rs80358378
ClinGen	rs80358378
ebi	rs80358378
HLI	rs80358378
Exac	rs80358378
Gnomad	rs80358378
Varsome	rs80358378
LitVar	rs80358378
Map	rs80358378
PheGenI	rs80358378
Biobank	rs80358378
1000 genomes	rs80358378
hgdp	rs80358378
ensembl	rs80358378
geneview	rs80358378
scholar	rs80358378
google	rs80358378
pharmgkb	rs80358378
gwascentral	rs80358378
openSNP	rs80358378
23andMe	rs80358378
SNPshot	rs80358378
SNPdbe	rs80358378
MSV3d	rs80358378
GWAS Ctlg	rs80358378

Max Magnitude

0

ClinVar
Risk	rs80358378(A;A)
Alt	rs80358378(A;A)
Reference	Rs80358378(G;G)
Significance	Probable-Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37003454G>A
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000146591.1,