rs398124470

Orientation

plus

Stabilized

plus

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

Make rs398124470(G;G)

Make rs398124470(G;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37051871

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs398124470
dbSNP (classic)	rs398124470
ClinGen	rs398124470
ebi	rs398124470
HLI	rs398124470
Exac	rs398124470
Gnomad	rs398124470
Varsome	rs398124470
LitVar	rs398124470
Map	rs398124470
PheGenI	rs398124470
Biobank	rs398124470
1000 genomes	rs398124470
hgdp	rs398124470
ensembl	rs398124470
geneview	rs398124470
scholar	rs398124470
google	rs398124470
pharmgkb	rs398124470
gwascentral	rs398124470
openSNP	rs398124470
23andMe	rs398124470
SNPshot	rs398124470
SNPdbe	rs398124470
MSV3d	rs398124470
GWAS Ctlg	rs398124470

Max Magnitude

0

ClinVar
Risk	rs398124470(C;C) rs398124470(G;G)
Alt	rs398124470(C;C) rs398124470(G;G)
Reference	Rs398124470(T;T)
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.37051973T>G
CLNSRC	ClinVar Emory University
CLNACC	RCV000082500.4,