rs398124466

Orientation

plus

Stabilized

plus

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

Make rs398124466(C;T)

Make rs398124466(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

36985782

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs398124466
dbSNP (classic)	rs398124466
ClinGen	rs398124466
ebi	rs398124466
HLI	rs398124466
Exac	rs398124466
Gnomad	rs398124466
Varsome	rs398124466
LitVar	rs398124466
Map	rs398124466
PheGenI	rs398124466
Biobank	rs398124466
1000 genomes	rs398124466
hgdp	rs398124466
ensembl	rs398124466
geneview	rs398124466
scholar	rs398124466
google	rs398124466
pharmgkb	rs398124466
gwascentral	rs398124466
openSNP	rs398124466
23andMe	rs398124466
SNPshot	rs398124466
SNPdbe	rs398124466
MSV3d	rs398124466
GWAS Ctlg	rs398124466

Max Magnitude

0

ClinVar
Risk	rs398124466(T;T)
Alt	rs398124466(T;T)
Reference	Rs398124466(C;C)
Significance	Pathogenic
Disease	not provided Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	not provided Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.36985884C>T
CLNSRC	ClinVar Emory University University of Chicago
CLNACC	RCV000082486.3, RCV000146553.2,