rs797045787

Orientation

plus

Stabilized

plus

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

Make rs797045787(-;CT)

Make rs797045787(CT;CT)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

37064753

Gene	C5orf42, NIPBL

is a	snp
is	mentioned by
dbSNP	rs797045787
dbSNP (classic)	rs797045787
ClinGen	rs797045787
ebi	rs797045787
HLI	rs797045787
Exac	rs797045787
Gnomad	rs797045787
Varsome	rs797045787
LitVar	rs797045787
Map	rs797045787
PheGenI	rs797045787
Biobank	rs797045787
1000 genomes	rs797045787
hgdp	rs797045787
ensembl	rs797045787
geneview	rs797045787
scholar	rs797045787
google	rs797045787
pharmgkb	rs797045787
gwascentral	rs797045787
openSNP	rs797045787
23andMe	rs797045787
SNPshot	rs797045787
SNPdbe	rs797045787
MSV3d	rs797045787
GWAS Ctlg	rs797045787

Max Magnitude

0

ClinVar
Risk	rs797045787(CT;CT)
Alt	rs797045787(CT;CT)
Reference	Rs797045787(-;-)
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.37064854_37064855dupCT
CLNSRC
CLNACC	RCV000192755.1,