rs587783987

Orientation

plus

Stabilized

plus

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

Make rs587783987(-;-)

Make rs587783987(-;TTG)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37036440

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783987
dbSNP (classic)	rs587783987
ClinGen	rs587783987
ebi	rs587783987
HLI	rs587783987
Exac	rs587783987
Gnomad	rs587783987
Varsome	rs587783987
LitVar	rs587783987
Map	rs587783987
PheGenI	rs587783987
Biobank	rs587783987
1000 genomes	rs587783987
hgdp	rs587783987
ensembl	rs587783987
geneview	rs587783987
scholar	rs587783987
google	rs587783987
pharmgkb	rs587783987
gwascentral	rs587783987
openSNP	rs587783987
23andMe	rs587783987
SNPshot	rs587783987
SNPdbe	rs587783987
MSV3d	rs587783987
GWAS Ctlg	rs587783987

Max Magnitude

0

ClinVar
Risk	rs587783987(-;-)
Alt	rs587783987(-;-)
Reference	Rs587783987(TTG;TTG)
Significance	Probable-Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37036542_37036544delTTG
CLNSRC
CLNACC	RCV000146658.1,