rs587783966

Orientation

plus

Stabilized

plus

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

Make rs587783966(A;T)

Make rs587783966(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37020876

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783966
dbSNP (classic)	rs587783966
ClinGen	rs587783966
ebi	rs587783966
HLI	rs587783966
Exac	rs587783966
Gnomad	rs587783966
Varsome	rs587783966
LitVar	rs587783966
Map	rs587783966
PheGenI	rs587783966
Biobank	rs587783966
1000 genomes	rs587783966
hgdp	rs587783966
ensembl	rs587783966
geneview	rs587783966
scholar	rs587783966
google	rs587783966
pharmgkb	rs587783966
gwascentral	rs587783966
openSNP	rs587783966
23andMe	rs587783966
SNPshot	rs587783966
SNPdbe	rs587783966
MSV3d	rs587783966
GWAS Ctlg	rs587783966

Max Magnitude

0

ClinVar
Risk	rs587783966(T;T)
Alt	rs587783966(T;T)
Reference	Rs587783966(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.37020978A>T
CLNSRC
CLNACC	RCV000146633.1,