rs587783950

Orientation

plus

Stabilized

plus

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

Make rs587783950(G;T)

Make rs587783950(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37010208

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783950
dbSNP (classic)	rs587783950
ClinGen	rs587783950
ebi	rs587783950
HLI	rs587783950
Exac	rs587783950
Gnomad	rs587783950
Varsome	rs587783950
LitVar	rs587783950
Map	rs587783950
PheGenI	rs587783950
Biobank	rs587783950
1000 genomes	rs587783950
hgdp	rs587783950
ensembl	rs587783950
geneview	rs587783950
scholar	rs587783950
google	rs587783950
pharmgkb	rs587783950
gwascentral	rs587783950
openSNP	rs587783950
23andMe	rs587783950
SNPshot	rs587783950
SNPdbe	rs587783950
MSV3d	rs587783950
GWAS Ctlg	rs587783950

Max Magnitude

0

ClinVar
Risk	rs587783950(T;T)
Alt	rs587783950(T;T)
Reference	Rs587783950(G;G)
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.37010310G>T
CLNSRC
CLNACC	RCV000146611.1,