rs587783919

Orientation

plus

Stabilized

plus

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

Make rs587783919(A;T)

Make rs587783919(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37000390

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783919
dbSNP (classic)	rs587783919
ClinGen	rs587783919
ebi	rs587783919
HLI	rs587783919
Exac	rs587783919
Gnomad	rs587783919
Varsome	rs587783919
LitVar	rs587783919
Map	rs587783919
PheGenI	rs587783919
Biobank	rs587783919
1000 genomes	rs587783919
hgdp	rs587783919
ensembl	rs587783919
geneview	rs587783919
scholar	rs587783919
google	rs587783919
pharmgkb	rs587783919
gwascentral	rs587783919
openSNP	rs587783919
23andMe	rs587783919
SNPshot	rs587783919
SNPdbe	rs587783919
MSV3d	rs587783919
GWAS Ctlg	rs587783919

Max Magnitude

0

ClinVar
Risk	rs587783919(T;T)
Alt	rs587783919(T;T)
Reference	Rs587783919(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.37000492A>T
CLNSRC
CLNACC	RCV000146571.1,