rs797045780

Orientation

plus

Stabilized

plus

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

Make rs797045780(-;T)

Make rs797045780(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

37049158

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs797045780
dbSNP (classic)	rs797045780
ClinGen	rs797045780
ebi	rs797045780
HLI	rs797045780
Exac	rs797045780
Gnomad	rs797045780
Varsome	rs797045780
LitVar	rs797045780
Map	rs797045780
PheGenI	rs797045780
Biobank	rs797045780
1000 genomes	rs797045780
hgdp	rs797045780
ensembl	rs797045780
geneview	rs797045780
scholar	rs797045780
google	rs797045780
pharmgkb	rs797045780
gwascentral	rs797045780
openSNP	rs797045780
23andMe	rs797045780
SNPshot	rs797045780
SNPdbe	rs797045780
MSV3d	rs797045780
GWAS Ctlg	rs797045780

Max Magnitude

0

ClinVar
Risk	rs797045780(T;T)
Alt	rs797045780(T;T)
Reference	Rs797045780(-;-)
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.37049260dupT
CLNSRC
CLNACC	RCV000193077.1,