rs587783977

Orientation

plus

Stabilized

plus

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

Make rs587783977(A;G)

Make rs587783977(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37022281

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783977
dbSNP (classic)	rs587783977
ClinGen	rs587783977
ebi	rs587783977
HLI	rs587783977
Exac	rs587783977
Gnomad	rs587783977
Varsome	rs587783977
LitVar	rs587783977
Map	rs587783977
PheGenI	rs587783977
Biobank	rs587783977
1000 genomes	rs587783977
hgdp	rs587783977
ensembl	rs587783977
geneview	rs587783977
scholar	rs587783977
google	rs587783977
pharmgkb	rs587783977
gwascentral	rs587783977
openSNP	rs587783977
23andMe	rs587783977
SNPshot	rs587783977
SNPdbe	rs587783977
MSV3d	rs587783977
GWAS Ctlg	rs587783977

Max Magnitude

0

ClinVar
Risk	rs587783977(G;G)
Alt	rs587783977(G;G)
Reference	Rs587783977(A;A)
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.37022383A>G
CLNSRC
CLNACC	RCV000146646.1,