rs587784017

Orientation

plus

Stabilized

plus

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

Make rs587784017(A;A)

Make rs587784017(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37048502

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784017
dbSNP (classic)	rs587784017
ClinGen	rs587784017
ebi	rs587784017
HLI	rs587784017
Exac	rs587784017
Gnomad	rs587784017
Varsome	rs587784017
LitVar	rs587784017
Map	rs587784017
PheGenI	rs587784017
Biobank	rs587784017
1000 genomes	rs587784017
hgdp	rs587784017
ensembl	rs587784017
geneview	rs587784017
scholar	rs587784017
google	rs587784017
pharmgkb	rs587784017
gwascentral	rs587784017
openSNP	rs587784017
23andMe	rs587784017
SNPshot	rs587784017
SNPdbe	rs587784017
MSV3d	rs587784017
GWAS Ctlg	rs587784017

Max Magnitude

0

ClinVar
Risk	rs587784017(A;A)
Alt	rs587784017(A;A)
Reference	Rs587784017(G;G)
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.37048604G>A
CLNSRC
CLNACC	RCV000146696.1,