rs80358368

Orientation

plus

Stabilized

plus

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

Make rs80358368(-;-)

Make rs80358368(-;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37060947

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358368
dbSNP (classic)	rs80358368
ClinGen	rs80358368
ebi	rs80358368
HLI	rs80358368
Exac	rs80358368
Gnomad	rs80358368
Varsome	rs80358368
LitVar	rs80358368
Map	rs80358368
PheGenI	rs80358368
Biobank	rs80358368
1000 genomes	rs80358368
hgdp	rs80358368
ensembl	rs80358368
geneview	rs80358368
scholar	rs80358368
google	rs80358368
pharmgkb	rs80358368
gwascentral	rs80358368
openSNP	rs80358368
23andMe	rs80358368
SNPshot	rs80358368
SNPdbe	rs80358368
MSV3d	rs80358368
GWAS Ctlg	rs80358368

Max Magnitude

0

ClinVar
Risk	rs80358368(-;-)
Alt	rs80358368(-;-)
Reference	Rs80358368(C;C)
Significance	Pathogenic
Disease	Cornelia de Lange syndrome 1 not provided
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1 not provided
Reversed	0
HGVS	NC_000005.9:g.37061049delC
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000086392.3, RCV000256022.1,