rs398124471

Orientation

plus

Stabilized

plus

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

Make rs398124471(C;T)

Make rs398124471(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37052522

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs398124471
dbSNP (classic)	rs398124471
ClinGen	rs398124471
ebi	rs398124471
HLI	rs398124471
Exac	rs398124471
Gnomad	rs398124471
Varsome	rs398124471
LitVar	rs398124471
Map	rs398124471
PheGenI	rs398124471
Biobank	rs398124471
1000 genomes	rs398124471
hgdp	rs398124471
ensembl	rs398124471
geneview	rs398124471
scholar	rs398124471
google	rs398124471
pharmgkb	rs398124471
gwascentral	rs398124471
openSNP	rs398124471
23andMe	rs398124471
SNPshot	rs398124471
SNPdbe	rs398124471
MSV3d	rs398124471
GWAS Ctlg	rs398124471

Max Magnitude

0

ClinVar
Risk	rs398124471(T;T)
Alt	rs398124471(T;T)
Reference	Rs398124471(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.37052624C>T
CLNSRC	HGMD
CLNACC	RCV000082501.3, RCV000146719.2,