rs797045764

Orientation

plus

Stabilized

plus

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

Make rs797045764(-;CCTGTCAACTAACATGT)

Make rs797045764(CCTGTCAACTAACATGT;CCTGTCAACTAACATGT)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

37014702

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs797045764
dbSNP (classic)	rs797045764
ClinGen	rs797045764
ebi	rs797045764
HLI	rs797045764
Exac	rs797045764
Gnomad	rs797045764
Varsome	rs797045764
LitVar	rs797045764
Map	rs797045764
PheGenI	rs797045764
Biobank	rs797045764
1000 genomes	rs797045764
hgdp	rs797045764
ensembl	rs797045764
geneview	rs797045764
scholar	rs797045764
google	rs797045764
pharmgkb	rs797045764
gwascentral	rs797045764
openSNP	rs797045764
23andMe	rs797045764
SNPshot	rs797045764
SNPdbe	rs797045764
MSV3d	rs797045764
GWAS Ctlg	rs797045764

Max Magnitude

0

ClinVar
Risk	rs797045764(TCCTGTCAACTAACATG;TCCTGTCAACTAACATG)
Alt	rs797045764(TCCTGTCAACTAACATG;TCCTGTCAACTAACATG)
Reference	Rs797045764(-;-)
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.37014804_37014805insCCTGTCAACTAACATGT
CLNSRC
CLNACC	RCV000194191.1,