rs80358376

Orientation

plus

Stabilized

plus

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

Make rs80358376(C;G)

Make rs80358376(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37049239

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358376
dbSNP (classic)	rs80358376
ClinGen	rs80358376
ebi	rs80358376
HLI	rs80358376
Exac	rs80358376
Gnomad	rs80358376
Varsome	rs80358376
LitVar	rs80358376
Map	rs80358376
PheGenI	rs80358376
Biobank	rs80358376
1000 genomes	rs80358376
hgdp	rs80358376
ensembl	rs80358376
geneview	rs80358376
scholar	rs80358376
google	rs80358376
pharmgkb	rs80358376
gwascentral	rs80358376
openSNP	rs80358376
23andMe	rs80358376
SNPshot	rs80358376
SNPdbe	rs80358376
MSV3d	rs80358376
GWAS Ctlg	rs80358376

Max Magnitude

0

ClinVar
Risk	rs80358376(G;G) rs80358376(T;T)
Alt	rs80358376(G;G) rs80358376(T;T)
Reference	Rs80358376(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.37049341C>G; NC_000005.9:g.37049341C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000086388.2, RCV000146704.1,