rs587783982

Orientation

plus

Stabilized

plus

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

Make rs587783982(A;C)

Make rs587783982(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37026251

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783982
dbSNP (classic)	rs587783982
ClinGen	rs587783982
ebi	rs587783982
HLI	rs587783982
Exac	rs587783982
Gnomad	rs587783982
Varsome	rs587783982
LitVar	rs587783982
Map	rs587783982
PheGenI	rs587783982
Biobank	rs587783982
1000 genomes	rs587783982
hgdp	rs587783982
ensembl	rs587783982
geneview	rs587783982
scholar	rs587783982
google	rs587783982
pharmgkb	rs587783982
gwascentral	rs587783982
openSNP	rs587783982
23andMe	rs587783982
SNPshot	rs587783982
SNPdbe	rs587783982
MSV3d	rs587783982
GWAS Ctlg	rs587783982

Max Magnitude

0

ClinVar
Risk	rs587783982(C;C)
Alt	rs587783982(C;C)
Reference	Rs587783982(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.37026353A>C
CLNSRC
CLNACC	RCV000146653.1,