rs587783917

Orientation

plus

Stabilized

plus

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

Make rs587783917(-;-)

Make rs587783917(-;CCTAATGT)

Make rs587783917(CCTAATGT;CCTAATGT)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36958183

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783917
dbSNP (classic)	rs587783917
ClinGen	rs587783917
ebi	rs587783917
HLI	rs587783917
Exac	rs587783917
Gnomad	rs587783917
Varsome	rs587783917
LitVar	rs587783917
Map	rs587783917
PheGenI	rs587783917
Biobank	rs587783917
1000 genomes	rs587783917
hgdp	rs587783917
ensembl	rs587783917
geneview	rs587783917
scholar	rs587783917
google	rs587783917
pharmgkb	rs587783917
gwascentral	rs587783917
openSNP	rs587783917
23andMe	rs587783917
SNPshot	rs587783917
SNPdbe	rs587783917
MSV3d	rs587783917
GWAS Ctlg	rs587783917

Max Magnitude

0

ClinVar
Risk	rs587783917(-;-)
Alt	rs587783917(-;-)
Reference	Rs587783917(GTCCTAAT;GTCCTAAT)
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.36958285_36958292delCCTAATGT
CLNSRC
CLNACC	RCV000146566.1,