rs80358374

Orientation

plus

Stabilized

plus

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

Make rs80358374(C;T)

Make rs80358374(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37000513

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358374
dbSNP (classic)	rs80358374
ClinGen	rs80358374
ebi	rs80358374
HLI	rs80358374
Exac	rs80358374
Gnomad	rs80358374
Varsome	rs80358374
LitVar	rs80358374
Map	rs80358374
PheGenI	rs80358374
Biobank	rs80358374
1000 genomes	rs80358374
hgdp	rs80358374
ensembl	rs80358374
geneview	rs80358374
scholar	rs80358374
google	rs80358374
pharmgkb	rs80358374
gwascentral	rs80358374
openSNP	rs80358374
23andMe	rs80358374
SNPshot	rs80358374
SNPdbe	rs80358374
MSV3d	rs80358374
GWAS Ctlg	rs80358374

Max Magnitude

0

ClinVar
Risk	rs80358374(T;T)
Alt	rs80358374(T;T)
Reference	Rs80358374(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.37000615C>T
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000086375.2,