rs587784053

Orientation

plus

Stabilized

plus

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

Make rs587784053(C;C)

Make rs587784053(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37064650

Gene	C5orf42, NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784053
dbSNP (classic)	rs587784053
ClinGen	rs587784053
ebi	rs587784053
HLI	rs587784053
Exac	rs587784053
Gnomad	rs587784053
Varsome	rs587784053
LitVar	rs587784053
Map	rs587784053
PheGenI	rs587784053
Biobank	rs587784053
1000 genomes	rs587784053
hgdp	rs587784053
ensembl	rs587784053
geneview	rs587784053
scholar	rs587784053
google	rs587784053
pharmgkb	rs587784053
gwascentral	rs587784053
openSNP	rs587784053
23andMe	rs587784053
SNPshot	rs587784053
SNPdbe	rs587784053
MSV3d	rs587784053
GWAS Ctlg	rs587784053

Max Magnitude

0

ClinVar
Risk	rs587784053(C;C)
Alt	rs587784053(C;C)
Reference	Rs587784053(G;G)
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.37064752G>C
CLNSRC
CLNACC	RCV000146738.1,