rs80358384

Orientation

plus

Stabilized

plus

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

Make rs80358384(A;G)

Make rs80358384(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37057223

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358384
dbSNP (classic)	rs80358384
ClinGen	rs80358384
ebi	rs80358384
HLI	rs80358384
Exac	rs80358384
Gnomad	rs80358384
Varsome	rs80358384
LitVar	rs80358384
Map	rs80358384
PheGenI	rs80358384
Biobank	rs80358384
1000 genomes	rs80358384
hgdp	rs80358384
ensembl	rs80358384
geneview	rs80358384
scholar	rs80358384
google	rs80358384
pharmgkb	rs80358384
gwascentral	rs80358384
openSNP	rs80358384
23andMe	rs80358384
SNPshot	rs80358384
SNPdbe	rs80358384
MSV3d	rs80358384
GWAS Ctlg	rs80358384

Max Magnitude

0

ClinVar
Risk	rs80358384(G;G)
Alt	rs80358384(G;G)
Reference	Rs80358384(A;A)
Significance	Probable-Pathogenic
Disease	Cornelia de Lange syndrome 1 not provided
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1 not provided
Reversed	0
HGVS	NC_000005.9:g.37057325A>G
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000086389.4, RCV000412771.1,