rs587783918

Orientation

plus

Stabilized

plus

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

Make rs587783918(A;G)

Make rs587783918(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36995620

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783918
dbSNP (classic)	rs587783918
ClinGen	rs587783918
ebi	rs587783918
HLI	rs587783918
Exac	rs587783918
Gnomad	rs587783918
Varsome	rs587783918
LitVar	rs587783918
Map	rs587783918
PheGenI	rs587783918
Biobank	rs587783918
1000 genomes	rs587783918
hgdp	rs587783918
ensembl	rs587783918
geneview	rs587783918
scholar	rs587783918
google	rs587783918
pharmgkb	rs587783918
gwascentral	rs587783918
openSNP	rs587783918
23andMe	rs587783918
SNPshot	rs587783918
SNPdbe	rs587783918
MSV3d	rs587783918
GWAS Ctlg	rs587783918

Max Magnitude

0

ClinVar
Risk	rs587783918(G;G)
Alt	rs587783918(G;G)
Reference	Rs587783918(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.36995722A>G
CLNSRC
CLNACC	RCV000146568.1,