rs797045748

Orientation

plus

Stabilized

plus

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

Make rs797045748(-;C)

Make rs797045748(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

36985172

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs797045748
dbSNP (classic)	rs797045748
ClinGen	rs797045748
ebi	rs797045748
HLI	rs797045748
Exac	rs797045748
Gnomad	rs797045748
Varsome	rs797045748
LitVar	rs797045748
Map	rs797045748
PheGenI	rs797045748
Biobank	rs797045748
1000 genomes	rs797045748
hgdp	rs797045748
ensembl	rs797045748
geneview	rs797045748
scholar	rs797045748
google	rs797045748
pharmgkb	rs797045748
gwascentral	rs797045748
openSNP	rs797045748
23andMe	rs797045748
SNPshot	rs797045748
SNPdbe	rs797045748
MSV3d	rs797045748
GWAS Ctlg	rs797045748

Max Magnitude

0

ClinVar
Risk	rs797045748(C;C)
Alt	rs797045748(C;C)
Reference	Rs797045748(-;-)
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.36985274dupC
CLNSRC
CLNACC	RCV000194718.1,