rs587783878

Orientation

plus

Stabilized

plus

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

Make rs587783878(-;-)

Make rs587783878(-;TATG)

Make rs587783878(TATG;TATG)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36975940

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783878
dbSNP (classic)	rs587783878
ClinGen	rs587783878
ebi	rs587783878
HLI	rs587783878
Exac	rs587783878
Gnomad	rs587783878
Varsome	rs587783878
LitVar	rs587783878
Map	rs587783878
PheGenI	rs587783878
Biobank	rs587783878
1000 genomes	rs587783878
hgdp	rs587783878
ensembl	rs587783878
geneview	rs587783878
scholar	rs587783878
google	rs587783878
pharmgkb	rs587783878
gwascentral	rs587783878
openSNP	rs587783878
23andMe	rs587783878
SNPshot	rs587783878
SNPdbe	rs587783878
MSV3d	rs587783878
GWAS Ctlg	rs587783878

Max Magnitude

0

ClinVar
Risk	rs587783878(-;-)
Alt	rs587783878(-;-)
Reference	Rs587783878(ATGT;ATGT)
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.36976042_36976045delTATG
CLNSRC
CLNACC	RCV000146510.1,