rs587783944

Orientation

plus

Stabilized

plus

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

Make rs587783944(-;-)

Make rs587783944(-;AAATGTCAGTGAA)

Make rs587783944(AAATGTCAGTGAA;AAATGTCAGTGAA)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37008043

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783944
dbSNP (classic)	rs587783944
ClinGen	rs587783944
ebi	rs587783944
HLI	rs587783944
Exac	rs587783944
Gnomad	rs587783944
Varsome	rs587783944
LitVar	rs587783944
Map	rs587783944
PheGenI	rs587783944
Biobank	rs587783944
1000 genomes	rs587783944
hgdp	rs587783944
ensembl	rs587783944
geneview	rs587783944
scholar	rs587783944
google	rs587783944
pharmgkb	rs587783944
gwascentral	rs587783944
openSNP	rs587783944
23andMe	rs587783944
SNPshot	rs587783944
SNPdbe	rs587783944
MSV3d	rs587783944
GWAS Ctlg	rs587783944

Max Magnitude

0

ClinVar
Risk	rs587783944(-;-)
Alt	rs587783944(-;-)
Reference	Rs587783944(AAAATGTCAGTGA;AAAATGTCAGTGA)
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.37008145_37008157delAAATGTCAGTGAA
CLNSRC
CLNACC	RCV000146604.1,