rs587784049

Orientation

plus

Stabilized

plus

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

Make rs587784049(A;A)

Make rs587784049(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36971944

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784049
dbSNP (classic)	rs587784049
ClinGen	rs587784049
ebi	rs587784049
HLI	rs587784049
Exac	rs587784049
Gnomad	rs587784049
Varsome	rs587784049
LitVar	rs587784049
Map	rs587784049
PheGenI	rs587784049
Biobank	rs587784049
1000 genomes	rs587784049
hgdp	rs587784049
ensembl	rs587784049
geneview	rs587784049
scholar	rs587784049
google	rs587784049
pharmgkb	rs587784049
gwascentral	rs587784049
openSNP	rs587784049
23andMe	rs587784049
SNPshot	rs587784049
SNPdbe	rs587784049
MSV3d	rs587784049
GWAS Ctlg	rs587784049

Max Magnitude

0

ClinVar
Risk	rs587784049(A;A)
Alt	rs587784049(A;A)
Reference	Rs587784049(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.36972046G>A
CLNSRC
CLNACC	RCV000146731.1,