rs587783922

Orientation

plus

Stabilized

plus

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

Make rs587783922(A;G)

Make rs587783922(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

36958218

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783922
dbSNP (classic)	rs587783922
ClinGen	rs587783922
ebi	rs587783922
HLI	rs587783922
Exac	rs587783922
Gnomad	rs587783922
Varsome	rs587783922
LitVar	rs587783922
Map	rs587783922
PheGenI	rs587783922
Biobank	rs587783922
1000 genomes	rs587783922
hgdp	rs587783922
ensembl	rs587783922
geneview	rs587783922
scholar	rs587783922
google	rs587783922
pharmgkb	rs587783922
gwascentral	rs587783922
openSNP	rs587783922
23andMe	rs587783922
SNPshot	rs587783922
SNPdbe	rs587783922
MSV3d	rs587783922
GWAS Ctlg	rs587783922

Max Magnitude

0

ClinVar
Risk	rs587783922(G;G)
Alt	rs587783922(G;G)
Reference	Rs587783922(A;A)
Significance	Probable-Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.36958320A>G
CLNSRC
CLNACC	RCV000146576.2,