rs80358366

Orientation

plus

Stabilized

plus

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

Make rs80358366(A;A)

Make rs80358366(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37022272

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358366
dbSNP (classic)	rs80358366
ClinGen	rs80358366
ebi	rs80358366
HLI	rs80358366
Exac	rs80358366
Gnomad	rs80358366
Varsome	rs80358366
LitVar	rs80358366
Map	rs80358366
PheGenI	rs80358366
Biobank	rs80358366
1000 genomes	rs80358366
hgdp	rs80358366
ensembl	rs80358366
geneview	rs80358366
scholar	rs80358366
google	rs80358366
pharmgkb	rs80358366
gwascentral	rs80358366
openSNP	rs80358366
23andMe	rs80358366
SNPshot	rs80358366
SNPdbe	rs80358366
MSV3d	rs80358366
GWAS Ctlg	rs80358366

Max Magnitude

0

ClinVar
Risk	rs80358366(A;A)
Alt	rs80358366(A;A)
Reference	Rs80358366(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.37022374G>A
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000086383.4,