rs587784038

Orientation

plus

Stabilized

plus

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

Make rs587784038(G;G)

Make rs587784038(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37057180

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587784038
dbSNP (classic)	rs587784038
ClinGen	rs587784038
ebi	rs587784038
HLI	rs587784038
Exac	rs587784038
Gnomad	rs587784038
Varsome	rs587784038
LitVar	rs587784038
Map	rs587784038
PheGenI	rs587784038
Biobank	rs587784038
1000 genomes	rs587784038
hgdp	rs587784038
ensembl	rs587784038
geneview	rs587784038
scholar	rs587784038
google	rs587784038
pharmgkb	rs587784038
gwascentral	rs587784038
openSNP	rs587784038
23andMe	rs587784038
SNPshot	rs587784038
SNPdbe	rs587784038
MSV3d	rs587784038
GWAS Ctlg	rs587784038

Max Magnitude

0

ClinVar
Risk	rs587784038(G;G)
Alt	rs587784038(G;G)
Reference	Rs587784038(T;T)
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.37057282T>G
CLNSRC
CLNACC	RCV000146720.1,