rs587783888

Orientation

plus

Stabilized

plus

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

Make rs587783888(-;-)

Make rs587783888(-;GAAA)

Make rs587783888(GAAA;GAAA)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36984694

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783888
dbSNP (classic)	rs587783888
ClinGen	rs587783888
ebi	rs587783888
HLI	rs587783888
Exac	rs587783888
Gnomad	rs587783888
Varsome	rs587783888
LitVar	rs587783888
Map	rs587783888
PheGenI	rs587783888
Biobank	rs587783888
1000 genomes	rs587783888
hgdp	rs587783888
ensembl	rs587783888
geneview	rs587783888
scholar	rs587783888
google	rs587783888
pharmgkb	rs587783888
gwascentral	rs587783888
openSNP	rs587783888
23andMe	rs587783888
SNPshot	rs587783888
SNPdbe	rs587783888
MSV3d	rs587783888
GWAS Ctlg	rs587783888

Max Magnitude

0

ClinVar
Risk	rs587783888(-;-)
Alt	rs587783888(-;-)
Reference	Rs587783888(AAAG;AAAG)
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.36984796_36984799delGAAA
CLNSRC
CLNACC	RCV000146522.1,