rs80358380

Orientation

plus

Stabilized

plus

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

Make rs80358380(A;A)

Make rs80358380(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37022088

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358380
dbSNP (classic)	rs80358380
ClinGen	rs80358380
ebi	rs80358380
HLI	rs80358380
Exac	rs80358380
Gnomad	rs80358380
Varsome	rs80358380
LitVar	rs80358380
Map	rs80358380
PheGenI	rs80358380
Biobank	rs80358380
1000 genomes	rs80358380
hgdp	rs80358380
ensembl	rs80358380
geneview	rs80358380
scholar	rs80358380
google	rs80358380
pharmgkb	rs80358380
gwascentral	rs80358380
openSNP	rs80358380
23andMe	rs80358380
SNPshot	rs80358380
SNPdbe	rs80358380
MSV3d	rs80358380
GWAS Ctlg	rs80358380

Max Magnitude

0

ClinVar
Risk	rs80358380(A;A)
Alt	rs80358380(A;A)
Reference	Rs80358380(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.37022190G>A
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000086381.4,