rs587783930

Orientation

plus

Stabilized

plus

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

Make rs587783930(-;-)

Make rs587783930(-;TG)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37003280

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783930
dbSNP (classic)	rs587783930
ClinGen	rs587783930
ebi	rs587783930
HLI	rs587783930
Exac	rs587783930
Gnomad	rs587783930
Varsome	rs587783930
LitVar	rs587783930
Map	rs587783930
PheGenI	rs587783930
Biobank	rs587783930
1000 genomes	rs587783930
hgdp	rs587783930
ensembl	rs587783930
geneview	rs587783930
scholar	rs587783930
google	rs587783930
pharmgkb	rs587783930
gwascentral	rs587783930
openSNP	rs587783930
23andMe	rs587783930
SNPshot	rs587783930
SNPdbe	rs587783930
MSV3d	rs587783930
GWAS Ctlg	rs587783930

Max Magnitude

0

ClinVar
Risk	rs587783930(-;-)
Alt	rs587783930(-;-)
Reference	Rs587783930(TG;TG)
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.37003382_37003383delTG
CLNSRC
CLNACC	RCV000146586.1,