rs587783927

Orientation

plus

Stabilized

plus

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

Make rs587783927(G;T)

Make rs587783927(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36958232

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783927
dbSNP (classic)	rs587783927
ClinGen	rs587783927
ebi	rs587783927
HLI	rs587783927
Exac	rs587783927
Gnomad	rs587783927
Varsome	rs587783927
LitVar	rs587783927
Map	rs587783927
PheGenI	rs587783927
Biobank	rs587783927
1000 genomes	rs587783927
hgdp	rs587783927
ensembl	rs587783927
geneview	rs587783927
scholar	rs587783927
google	rs587783927
pharmgkb	rs587783927
gwascentral	rs587783927
openSNP	rs587783927
23andMe	rs587783927
SNPshot	rs587783927
SNPdbe	rs587783927
MSV3d	rs587783927
GWAS Ctlg	rs587783927

Max Magnitude

0

ClinVar
Risk	rs587783927(T;T)
Alt	rs587783927(T;T)
Reference	Rs587783927(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.36958334G>T
CLNSRC
CLNACC	RCV000146582.1,