rs80358360

Orientation

plus

Stabilized

plus

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

Make rs80358360(C;G)

Make rs80358360(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

36962249

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358360
dbSNP (classic)	rs80358360
ClinGen	rs80358360
ebi	rs80358360
HLI	rs80358360
Exac	rs80358360
Gnomad	rs80358360
Varsome	rs80358360
LitVar	rs80358360
Map	rs80358360
PheGenI	rs80358360
Biobank	rs80358360
1000 genomes	rs80358360
hgdp	rs80358360
ensembl	rs80358360
geneview	rs80358360
scholar	rs80358360
google	rs80358360
pharmgkb	rs80358360
gwascentral	rs80358360
openSNP	rs80358360
23andMe	rs80358360
SNPshot	rs80358360
SNPdbe	rs80358360
MSV3d	rs80358360
GWAS Ctlg	rs80358360

Max Magnitude

0

ClinVar
Risk	rs80358360(G;G) rs80358360(T;T)
Alt	rs80358360(G;G) rs80358360(T;T)
Reference	Rs80358360(C;C)
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.36962351C>G
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000086385.2,