rs80358386

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CAGTGAACTA;CAGTGAACTA)	0	common in clinvar
(GAACTACAGT;GAACTACAGT)	0	common in clinvar
(I;I)	0	common genotype

Make rs80358386(-;-)

Make rs80358386(-;GAACTACAGT)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37008053

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358386
dbSNP (classic)	rs80358386
ClinGen	rs80358386
ebi	rs80358386
HLI	rs80358386
Exac	rs80358386
Gnomad	rs80358386
Varsome	rs80358386
LitVar	rs80358386
Map	rs80358386
PheGenI	rs80358386
Biobank	rs80358386
1000 genomes	rs80358386
hgdp	rs80358386
ensembl	rs80358386
geneview	rs80358386
scholar	rs80358386
google	rs80358386
pharmgkb	rs80358386
gwascentral	rs80358386
openSNP	rs80358386
23andMe	rs80358386
SNPshot	rs80358386
SNPdbe	rs80358386
MSV3d	rs80358386
GWAS Ctlg	rs80358386

Max Magnitude

0

ClinVar
Risk	rs80358386(-;-)
Alt	rs80358386(-;-)
Reference	Rs80358386(CAGTGAACTA;CAGTGAACTA)
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.37008155_37008164delGAACTACAGT
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000086377.3,