rs587783897

Orientation

plus

Stabilized

plus

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

Make rs587783897(-;-)

Make rs587783897(-;CC)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36985287

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783897
dbSNP (classic)	rs587783897
ClinGen	rs587783897
ebi	rs587783897
HLI	rs587783897
Exac	rs587783897
Gnomad	rs587783897
Varsome	rs587783897
LitVar	rs587783897
Map	rs587783897
PheGenI	rs587783897
Biobank	rs587783897
1000 genomes	rs587783897
hgdp	rs587783897
ensembl	rs587783897
geneview	rs587783897
scholar	rs587783897
google	rs587783897
pharmgkb	rs587783897
gwascentral	rs587783897
openSNP	rs587783897
23andMe	rs587783897
SNPshot	rs587783897
SNPdbe	rs587783897
MSV3d	rs587783897
GWAS Ctlg	rs587783897

Max Magnitude

0

ClinVar
Risk	rs587783897(-;-)
Alt	rs587783897(-;-)
Reference	Rs587783897(CC;CC)
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.36985389_36985390delCC
CLNSRC
CLNACC	RCV000146536.1,