rs587784000

Orientation

plus

Stabilized

plus

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

Make rs587784000(G;T)

Make rs587784000(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37044480

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784000
dbSNP (classic)	rs587784000
ClinGen	rs587784000
ebi	rs587784000
HLI	rs587784000
Exac	rs587784000
Gnomad	rs587784000
Varsome	rs587784000
LitVar	rs587784000
Map	rs587784000
PheGenI	rs587784000
Biobank	rs587784000
1000 genomes	rs587784000
hgdp	rs587784000
ensembl	rs587784000
geneview	rs587784000
scholar	rs587784000
google	rs587784000
pharmgkb	rs587784000
gwascentral	rs587784000
openSNP	rs587784000
23andMe	rs587784000
SNPshot	rs587784000
SNPdbe	rs587784000
MSV3d	rs587784000
GWAS Ctlg	rs587784000

Max Magnitude

0

ClinVar
Risk	rs587784000(C;C) rs587784000(T;T)
Alt	rs587784000(C;C) rs587784000(T;T)
Reference	Rs587784000(G;G)
Significance	Probable-Pathogenic
Disease	Abnormal facial shape Brachydactyly syndrome Global developmental delay Intellectual disability Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Abnormal facial shape Brachydactyly syndrome Global developmental delay Intellectual disability Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37044582G>C; NC_000005.9:g.37044582G>T
CLNSRC
CLNACC	RCV000415074.1, RCV000146675.1,