rs797045775

Orientation

plus

Stabilized

plus

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

Make rs797045775(C;C)

Make rs797045775(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

37038740

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs797045775
dbSNP (classic)	rs797045775
ClinGen	rs797045775
ebi	rs797045775
HLI	rs797045775
Exac	rs797045775
Gnomad	rs797045775
Varsome	rs797045775
LitVar	rs797045775
Map	rs797045775
PheGenI	rs797045775
Biobank	rs797045775
1000 genomes	rs797045775
hgdp	rs797045775
ensembl	rs797045775
geneview	rs797045775
scholar	rs797045775
google	rs797045775
pharmgkb	rs797045775
gwascentral	rs797045775
openSNP	rs797045775
23andMe	rs797045775
SNPshot	rs797045775
SNPdbe	rs797045775
MSV3d	rs797045775
GWAS Ctlg	rs797045775

Max Magnitude

0

ClinVar
Risk	rs797045775(C;C)
Alt	rs797045775(C;C)
Reference	Rs797045775(T;T)
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.37038842T>C
CLNSRC
CLNACC	RCV000194053.1,