rs797045783

Orientation

plus

Stabilized

plus

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

Make rs797045783(-;A)

Make rs797045783(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

37060974

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs797045783
dbSNP (classic)	rs797045783
ClinGen	rs797045783
ebi	rs797045783
HLI	rs797045783
Exac	rs797045783
Gnomad	rs797045783
Varsome	rs797045783
LitVar	rs797045783
Map	rs797045783
PheGenI	rs797045783
Biobank	rs797045783
1000 genomes	rs797045783
hgdp	rs797045783
ensembl	rs797045783
geneview	rs797045783
scholar	rs797045783
google	rs797045783
pharmgkb	rs797045783
gwascentral	rs797045783
openSNP	rs797045783
23andMe	rs797045783
SNPshot	rs797045783
SNPdbe	rs797045783
MSV3d	rs797045783
GWAS Ctlg	rs797045783

Max Magnitude

0

ClinVar
Risk	rs797045783(A;A)
Alt	rs797045783(A;A)
Reference	Rs797045783(-;-)
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.37061076dupA
CLNSRC
CLNACC	RCV000194236.1,