rs80358361

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AATCTAT;AATCTAT)	0	common in clinvar
(ATCTATA;ATCTATA)	0	common in clinvar
(I;I)	0	common genotype

Make rs80358361(-;-)

Make rs80358361(-;ATCTATA)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37048553

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358361
dbSNP (classic)	rs80358361
ClinGen	rs80358361
ebi	rs80358361
HLI	rs80358361
Exac	rs80358361
Gnomad	rs80358361
Varsome	rs80358361
LitVar	rs80358361
Map	rs80358361
PheGenI	rs80358361
Biobank	rs80358361
1000 genomes	rs80358361
hgdp	rs80358361
ensembl	rs80358361
geneview	rs80358361
scholar	rs80358361
google	rs80358361
pharmgkb	rs80358361
gwascentral	rs80358361
openSNP	rs80358361
23andMe	rs80358361
SNPshot	rs80358361
SNPdbe	rs80358361
MSV3d	rs80358361
GWAS Ctlg	rs80358361

Max Magnitude

0

ClinVar
Risk	rs80358361(-;-)
Alt	rs80358361(-;-)
Reference	Rs80358361(AATCTAT;AATCTAT)
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.37048655_37048661delATCTATA
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000086387.3,