rs80358367

Orientation

plus

Stabilized

plus

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

Make rs80358367(C;T)

Make rs80358367(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

36955540

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358367
dbSNP (classic)	rs80358367
ClinGen	rs80358367
ebi	rs80358367
HLI	rs80358367
Exac	rs80358367
Gnomad	rs80358367
Varsome	rs80358367
LitVar	rs80358367
Map	rs80358367
PheGenI	rs80358367
Biobank	rs80358367
1000 genomes	rs80358367
hgdp	rs80358367
ensembl	rs80358367
geneview	rs80358367
scholar	rs80358367
google	rs80358367
pharmgkb	rs80358367
gwascentral	rs80358367
openSNP	rs80358367
23andMe	rs80358367
SNPshot	rs80358367
SNPdbe	rs80358367
MSV3d	rs80358367
GWAS Ctlg	rs80358367

Max Magnitude

0

ClinVar
Risk	rs80358367(T;T)
Alt	rs80358367(T;T)
Reference	Rs80358367(C;C)
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.36955642C>T
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000086366.3,