rs587784005

Orientation

plus

Stabilized

plus

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

Make rs587784005(-;-)

Make rs587784005(-;TGTG)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37044703

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784005
dbSNP (classic)	rs587784005
ClinGen	rs587784005
ebi	rs587784005
HLI	rs587784005
Exac	rs587784005
Gnomad	rs587784005
Varsome	rs587784005
LitVar	rs587784005
Map	rs587784005
PheGenI	rs587784005
Biobank	rs587784005
1000 genomes	rs587784005
hgdp	rs587784005
ensembl	rs587784005
geneview	rs587784005
scholar	rs587784005
google	rs587784005
pharmgkb	rs587784005
gwascentral	rs587784005
openSNP	rs587784005
23andMe	rs587784005
SNPshot	rs587784005
SNPdbe	rs587784005
MSV3d	rs587784005
GWAS Ctlg	rs587784005

Max Magnitude

0

ClinVar
Risk	rs587784005(-;-)
Alt	rs587784005(-;-)
Reference	Rs587784005(TGTG;TGTG)
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.37044805_37044808delTGTG
CLNSRC
CLNACC	RCV000146680.1,