rs587783931

Orientation

plus

Stabilized

plus

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

Make rs587783931(-;-)

Make rs587783931(-;CTTGGAGAAGAATAT)

Make rs587783931(CTTGGAGAAGAATAT;CTTGGAGAAGAATAT)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37003296

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783931
dbSNP (classic)	rs587783931
ClinGen	rs587783931
ebi	rs587783931
HLI	rs587783931
Exac	rs587783931
Gnomad	rs587783931
Varsome	rs587783931
LitVar	rs587783931
Map	rs587783931
PheGenI	rs587783931
Biobank	rs587783931
1000 genomes	rs587783931
hgdp	rs587783931
ensembl	rs587783931
geneview	rs587783931
scholar	rs587783931
google	rs587783931
pharmgkb	rs587783931
gwascentral	rs587783931
openSNP	rs587783931
23andMe	rs587783931
SNPshot	rs587783931
SNPdbe	rs587783931
MSV3d	rs587783931
GWAS Ctlg	rs587783931

Max Magnitude

0

ClinVar
Risk	rs587783931(-;-)
Alt	rs587783931(-;-)
Reference	Rs587783931(AATATCTTGGAGAAG;AATATCTTGGAGAAG)
Significance	Probable-Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37003398_37003412delCTTGGAGAAGAATAT
CLNSRC
CLNACC	RCV000146587.1,