rs587783910

Orientation

plus

Stabilized

plus

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

Make rs587783910(-;-)

Make rs587783910(-;AA)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36985953

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783910
dbSNP (classic)	rs587783910
ClinGen	rs587783910
ebi	rs587783910
HLI	rs587783910
Exac	rs587783910
Gnomad	rs587783910
Varsome	rs587783910
LitVar	rs587783910
Map	rs587783910
PheGenI	rs587783910
Biobank	rs587783910
1000 genomes	rs587783910
hgdp	rs587783910
ensembl	rs587783910
geneview	rs587783910
scholar	rs587783910
google	rs587783910
pharmgkb	rs587783910
gwascentral	rs587783910
openSNP	rs587783910
23andMe	rs587783910
SNPshot	rs587783910
SNPdbe	rs587783910
MSV3d	rs587783910
GWAS Ctlg	rs587783910

Max Magnitude

0

ClinVar
Risk	rs587783910(-;-)
Alt	rs587783910(-;-)
Reference	Rs587783910(AA;AA)
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.36986055_36986056delAA
CLNSRC
CLNACC	RCV000146557.1,