rs80358362

Orientation

plus

Stabilized

plus

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

Make rs80358362(C;T)

Make rs80358362(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37022256

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358362
dbSNP (classic)	rs80358362
ClinGen	rs80358362
ebi	rs80358362
HLI	rs80358362
Exac	rs80358362
Gnomad	rs80358362
Varsome	rs80358362
LitVar	rs80358362
Map	rs80358362
PheGenI	rs80358362
Biobank	rs80358362
1000 genomes	rs80358362
hgdp	rs80358362
ensembl	rs80358362
geneview	rs80358362
scholar	rs80358362
google	rs80358362
pharmgkb	rs80358362
gwascentral	rs80358362
openSNP	rs80358362
23andMe	rs80358362
SNPshot	rs80358362
SNPdbe	rs80358362
MSV3d	rs80358362
GWAS Ctlg	rs80358362

Max Magnitude

0

ClinVar
Risk	rs80358362(T;T)
Alt	rs80358362(T;T)
Reference	Rs80358362(C;C)
Significance	Pathogenic
Disease	not provided Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	not provided Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37022358C>T
CLNSRC	ClinVar Emory University University of Chicago
CLNACC	RCV000082493.3, RCV000086382.4,