rs587783894

Orientation

plus

Stabilized

plus

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

Make rs587783894(-;-)

Make rs587783894(-;A)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36985226

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783894
dbSNP (classic)	rs587783894
ClinGen	rs587783894
ebi	rs587783894
HLI	rs587783894
Exac	rs587783894
Gnomad	rs587783894
Varsome	rs587783894
LitVar	rs587783894
Map	rs587783894
PheGenI	rs587783894
Biobank	rs587783894
1000 genomes	rs587783894
hgdp	rs587783894
ensembl	rs587783894
geneview	rs587783894
scholar	rs587783894
google	rs587783894
pharmgkb	rs587783894
gwascentral	rs587783894
openSNP	rs587783894
23andMe	rs587783894
SNPshot	rs587783894
SNPdbe	rs587783894
MSV3d	rs587783894
GWAS Ctlg	rs587783894

Max Magnitude

0

ClinVar
Risk	rs587783894(-;-)
Alt	rs587783894(-;-)
Reference	Rs587783894(A;A)
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.36985328delA
CLNSRC
CLNACC	RCV000146532.1,