rs797045785

Orientation

plus

Stabilized

plus

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

Make rs797045785(-;G)

Make rs797045785(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

37063841

Gene	C5orf42, NIPBL

is a	snp
is	mentioned by
dbSNP	rs797045785
dbSNP (classic)	rs797045785
ClinGen	rs797045785
ebi	rs797045785
HLI	rs797045785
Exac	rs797045785
Gnomad	rs797045785
Varsome	rs797045785
LitVar	rs797045785
Map	rs797045785
PheGenI	rs797045785
Biobank	rs797045785
1000 genomes	rs797045785
hgdp	rs797045785
ensembl	rs797045785
geneview	rs797045785
scholar	rs797045785
google	rs797045785
pharmgkb	rs797045785
gwascentral	rs797045785
openSNP	rs797045785
23andMe	rs797045785
SNPshot	rs797045785
SNPdbe	rs797045785
MSV3d	rs797045785
GWAS Ctlg	rs797045785

Max Magnitude

0

ClinVar
Risk	rs797045785(G;G)
Alt	rs797045785(G;G)
Reference	Rs797045785(-;-)
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.37063943dupG
CLNSRC
CLNACC	RCV000193652.1,