rs80358370

Orientation

plus

Stabilized

plus

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

Make rs80358370(C;T)

Make rs80358370(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37057249

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358370
dbSNP (classic)	rs80358370
ClinGen	rs80358370
ebi	rs80358370
HLI	rs80358370
Exac	rs80358370
Gnomad	rs80358370
Varsome	rs80358370
LitVar	rs80358370
Map	rs80358370
PheGenI	rs80358370
Biobank	rs80358370
1000 genomes	rs80358370
hgdp	rs80358370
ensembl	rs80358370
geneview	rs80358370
scholar	rs80358370
google	rs80358370
pharmgkb	rs80358370
gwascentral	rs80358370
openSNP	rs80358370
23andMe	rs80358370
SNPshot	rs80358370
SNPdbe	rs80358370
MSV3d	rs80358370
GWAS Ctlg	rs80358370

Max Magnitude

0

ClinVar
Risk	rs80358370(T;T)
Alt	rs80358370(T;T)
Reference	Rs80358370(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.37057351C>T
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000086390.2,