rs587783937

Orientation

plus

Stabilized

plus

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

Make rs587783937(G;T)

Make rs587783937(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36953699

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783937
dbSNP (classic)	rs587783937
ClinGen	rs587783937
ebi	rs587783937
HLI	rs587783937
Exac	rs587783937
Gnomad	rs587783937
Varsome	rs587783937
LitVar	rs587783937
Map	rs587783937
PheGenI	rs587783937
Biobank	rs587783937
1000 genomes	rs587783937
hgdp	rs587783937
ensembl	rs587783937
geneview	rs587783937
scholar	rs587783937
google	rs587783937
pharmgkb	rs587783937
gwascentral	rs587783937
openSNP	rs587783937
23andMe	rs587783937
SNPshot	rs587783937
SNPdbe	rs587783937
MSV3d	rs587783937
GWAS Ctlg	rs587783937

Max Magnitude

0

ClinVar
Risk	rs587783937(T;T)
Alt	rs587783937(T;T)
Reference	Rs587783937(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.36953801G>T
CLNSRC
CLNACC	RCV000146596.1,