rs587783899

Orientation

plus

Stabilized

plus

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

Make rs587783899(C;T)

Make rs587783899(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36985440

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783899
dbSNP (classic)	rs587783899
ClinGen	rs587783899
ebi	rs587783899
HLI	rs587783899
Exac	rs587783899
Gnomad	rs587783899
Varsome	rs587783899
LitVar	rs587783899
Map	rs587783899
PheGenI	rs587783899
Biobank	rs587783899
1000 genomes	rs587783899
hgdp	rs587783899
ensembl	rs587783899
geneview	rs587783899
scholar	rs587783899
google	rs587783899
pharmgkb	rs587783899
gwascentral	rs587783899
openSNP	rs587783899
23andMe	rs587783899
SNPshot	rs587783899
SNPdbe	rs587783899
MSV3d	rs587783899
GWAS Ctlg	rs587783899

Max Magnitude

0

ClinVar
Risk	rs587783899(T;T)
Alt	rs587783899(T;T)
Reference	Rs587783899(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.36985542C>T
CLNSRC
CLNACC	RCV000146539.1,