rs587783880

Orientation

plus

Stabilized

plus

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

Make rs587783880(-;-)

Make rs587783880(-;TT)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36975993

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783880
dbSNP (classic)	rs587783880
ClinGen	rs587783880
ebi	rs587783880
HLI	rs587783880
Exac	rs587783880
Gnomad	rs587783880
Varsome	rs587783880
LitVar	rs587783880
Map	rs587783880
PheGenI	rs587783880
Biobank	rs587783880
1000 genomes	rs587783880
hgdp	rs587783880
ensembl	rs587783880
geneview	rs587783880
scholar	rs587783880
google	rs587783880
pharmgkb	rs587783880
gwascentral	rs587783880
openSNP	rs587783880
23andMe	rs587783880
SNPshot	rs587783880
SNPdbe	rs587783880
MSV3d	rs587783880
GWAS Ctlg	rs587783880

Max Magnitude

0

ClinVar
Risk	rs587783880(-;-)
Alt	rs587783880(-;-)
Reference	Rs587783880(TT;TT)
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.36976095_36976096delTT
CLNSRC
CLNACC	RCV000146513.1,