rs80358372

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AG;AG)	0	common in clinvar
(GA;GA)	0	common in clinvar
(I;I)	0	common genotype

Make rs80358372(-;-)

Make rs80358372(-;GA)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37017048

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358372
dbSNP (classic)	rs80358372
ClinGen	rs80358372
ebi	rs80358372
HLI	rs80358372
Exac	rs80358372
Gnomad	rs80358372
Varsome	rs80358372
LitVar	rs80358372
Map	rs80358372
PheGenI	rs80358372
Biobank	rs80358372
1000 genomes	rs80358372
hgdp	rs80358372
ensembl	rs80358372
geneview	rs80358372
scholar	rs80358372
google	rs80358372
pharmgkb	rs80358372
gwascentral	rs80358372
openSNP	rs80358372
23andMe	rs80358372
SNPshot	rs80358372
SNPdbe	rs80358372
MSV3d	rs80358372
GWAS Ctlg	rs80358372

Max Magnitude

0

ClinVar
Risk	rs80358372(-;-)
Alt	rs80358372(-;-)
Reference	Rs80358372(AG;AG)
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.37017150_37017151delGA
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000086380.3,