rs80358356

Orientation

plus

Stabilized

plus

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

Make rs80358356(A;A)

Make rs80358356(A;G)

Reference

GRCh38 38.1/142

Chromosome

5

Position

36995809

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358356
dbSNP (classic)	rs80358356
ClinGen	rs80358356
ebi	rs80358356
HLI	rs80358356
Exac	rs80358356
Gnomad	rs80358356
Varsome	rs80358356
LitVar	rs80358356
Map	rs80358356
PheGenI	rs80358356
Biobank	rs80358356
1000 genomes	rs80358356
hgdp	rs80358356
ensembl	rs80358356
geneview	rs80358356
scholar	rs80358356
google	rs80358356
pharmgkb	rs80358356
gwascentral	rs80358356
openSNP	rs80358356
23andMe	rs80358356
SNPshot	rs80358356
SNPdbe	rs80358356
MSV3d	rs80358356
GWAS Ctlg	rs80358356

Max Magnitude

0

ClinVar
Risk	rs80358356(A;A)
Alt	rs80358356(A;A)
Reference	Rs80358356(G;G)
Significance	Probable-Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.36995911G>A
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000146569.1,