rs587783954

Orientation

plus

Stabilized

plus

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

Make rs587783954(C;C)

Make rs587783954(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37014766

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783954
dbSNP (classic)	rs587783954
ClinGen	rs587783954
ebi	rs587783954
HLI	rs587783954
Exac	rs587783954
Gnomad	rs587783954
Varsome	rs587783954
LitVar	rs587783954
Map	rs587783954
PheGenI	rs587783954
Biobank	rs587783954
1000 genomes	rs587783954
hgdp	rs587783954
ensembl	rs587783954
geneview	rs587783954
scholar	rs587783954
google	rs587783954
pharmgkb	rs587783954
gwascentral	rs587783954
openSNP	rs587783954
23andMe	rs587783954
SNPshot	rs587783954
SNPdbe	rs587783954
MSV3d	rs587783954
GWAS Ctlg	rs587783954

Max Magnitude

0

ClinVar
Risk	rs587783954(C;C)
Alt	rs587783954(C;C)
Reference	Rs587783954(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.37014868G>C
CLNSRC
CLNACC	RCV000146616.1,