rs587783974

Orientation

plus

Stabilized

plus

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

Make rs587783974(A;G)

Make rs587783974(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37022242

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783974
dbSNP (classic)	rs587783974
ClinGen	rs587783974
ebi	rs587783974
HLI	rs587783974
Exac	rs587783974
Gnomad	rs587783974
Varsome	rs587783974
LitVar	rs587783974
Map	rs587783974
PheGenI	rs587783974
Biobank	rs587783974
1000 genomes	rs587783974
hgdp	rs587783974
ensembl	rs587783974
geneview	rs587783974
scholar	rs587783974
google	rs587783974
pharmgkb	rs587783974
gwascentral	rs587783974
openSNP	rs587783974
23andMe	rs587783974
SNPshot	rs587783974
SNPdbe	rs587783974
MSV3d	rs587783974
GWAS Ctlg	rs587783974

Max Magnitude

0

ClinVar
Risk	rs587783974(G;G)
Alt	rs587783974(G;G)
Reference	Rs587783974(A;A)
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.37022344A>G
CLNSRC
CLNACC	RCV000146643.1,