rs587783911

Orientation

plus

Stabilized

plus

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

Make rs587783911(A;A)

Make rs587783911(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36986012

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783911
dbSNP (classic)	rs587783911
ClinGen	rs587783911
ebi	rs587783911
HLI	rs587783911
Exac	rs587783911
Gnomad	rs587783911
Varsome	rs587783911
LitVar	rs587783911
Map	rs587783911
PheGenI	rs587783911
Biobank	rs587783911
1000 genomes	rs587783911
hgdp	rs587783911
ensembl	rs587783911
geneview	rs587783911
scholar	rs587783911
google	rs587783911
pharmgkb	rs587783911
gwascentral	rs587783911
openSNP	rs587783911
23andMe	rs587783911
SNPshot	rs587783911
SNPdbe	rs587783911
MSV3d	rs587783911
GWAS Ctlg	rs587783911

Max Magnitude

0

ClinVar
Risk	rs587783911(A;A)
Alt	rs587783911(A;A)
Reference	Rs587783911(T;T)
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.36986114T>A
CLNSRC
CLNACC	RCV000146558.1,