rs587783889

Orientation

plus

Stabilized

plus

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

Make rs587783889(C;T)

Make rs587783889(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36984756

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783889
dbSNP (classic)	rs587783889
ClinGen	rs587783889
ebi	rs587783889
HLI	rs587783889
Exac	rs587783889
Gnomad	rs587783889
Varsome	rs587783889
LitVar	rs587783889
Map	rs587783889
PheGenI	rs587783889
Biobank	rs587783889
1000 genomes	rs587783889
hgdp	rs587783889
ensembl	rs587783889
geneview	rs587783889
scholar	rs587783889
google	rs587783889
pharmgkb	rs587783889
gwascentral	rs587783889
openSNP	rs587783889
23andMe	rs587783889
SNPshot	rs587783889
SNPdbe	rs587783889
MSV3d	rs587783889
GWAS Ctlg	rs587783889

Max Magnitude

0

ClinVar
Risk	rs587783889(T;T)
Alt	rs587783889(T;T)
Reference	Rs587783889(C;C)
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.36984858C>T
CLNSRC
CLNACC	RCV000146524.1,