rs398124467

Orientation

plus

Stabilized

plus

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

Make rs398124467(-;G)

Make rs398124467(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

36985806

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs398124467
dbSNP (classic)	rs398124467
ClinGen	rs398124467
ebi	rs398124467
HLI	rs398124467
Exac	rs398124467
Gnomad	rs398124467
Varsome	rs398124467
LitVar	rs398124467
Map	rs398124467
PheGenI	rs398124467
Biobank	rs398124467
1000 genomes	rs398124467
hgdp	rs398124467
ensembl	rs398124467
geneview	rs398124467
scholar	rs398124467
google	rs398124467
pharmgkb	rs398124467
gwascentral	rs398124467
openSNP	rs398124467
23andMe	rs398124467
SNPshot	rs398124467
SNPdbe	rs398124467
MSV3d	rs398124467
GWAS Ctlg	rs398124467

Max Magnitude

0

ClinVar
Risk	rs398124467(G;G)
Alt	rs398124467(G;G)
Reference	Rs398124467(-;-)
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.36985908dupG
CLNSRC	ClinVar
CLNACC	RCV000082487.3, RCV000173920.1,