rs797045768

Orientation

plus

Stabilized

plus

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

Make rs797045768(-;CTGA)

Make rs797045768(CTGA;CTGA)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

37019381

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs797045768
dbSNP (classic)	rs797045768
ClinGen	rs797045768
ebi	rs797045768
HLI	rs797045768
Exac	rs797045768
Gnomad	rs797045768
Varsome	rs797045768
LitVar	rs797045768
Map	rs797045768
PheGenI	rs797045768
Biobank	rs797045768
1000 genomes	rs797045768
hgdp	rs797045768
ensembl	rs797045768
geneview	rs797045768
scholar	rs797045768
google	rs797045768
pharmgkb	rs797045768
gwascentral	rs797045768
openSNP	rs797045768
23andMe	rs797045768
SNPshot	rs797045768
SNPdbe	rs797045768
MSV3d	rs797045768
GWAS Ctlg	rs797045768

Max Magnitude

0

ClinVar
Risk	rs797045768(ACTG;ACTG)
Alt	rs797045768(ACTG;ACTG)
Reference	Rs797045768(-;-)
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.37019480_37019483dupCTGA
CLNSRC
CLNACC	RCV000192335.1,