rs587783997

Orientation

plus

Stabilized

plus

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

Make rs587783997(C;C)

Make rs587783997(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37044396

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783997
dbSNP (classic)	rs587783997
ClinGen	rs587783997
ebi	rs587783997
HLI	rs587783997
Exac	rs587783997
Gnomad	rs587783997
Varsome	rs587783997
LitVar	rs587783997
Map	rs587783997
PheGenI	rs587783997
Biobank	rs587783997
1000 genomes	rs587783997
hgdp	rs587783997
ensembl	rs587783997
geneview	rs587783997
scholar	rs587783997
google	rs587783997
pharmgkb	rs587783997
gwascentral	rs587783997
openSNP	rs587783997
23andMe	rs587783997
SNPshot	rs587783997
SNPdbe	rs587783997
MSV3d	rs587783997
GWAS Ctlg	rs587783997

Max Magnitude

0

ClinVar
Risk	rs587783997(C;C)
Alt	rs587783997(C;C)
Reference	Rs587783997(T;T)
Significance	Probable-Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37044498T>C
CLNSRC
CLNACC	RCV000146671.1,