rs398124465

Orientation

plus

Stabilized

plus

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

Make rs398124465(-;-)

Make rs398124465(-;AG)

Reference

GRCh38 38.1/141

Chromosome

5

Position

36985659

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs398124465
dbSNP (classic)	rs398124465
ClinGen	rs398124465
ebi	rs398124465
HLI	rs398124465
Exac	rs398124465
Gnomad	rs398124465
Varsome	rs398124465
LitVar	rs398124465
Map	rs398124465
PheGenI	rs398124465
Biobank	rs398124465
1000 genomes	rs398124465
hgdp	rs398124465
ensembl	rs398124465
geneview	rs398124465
scholar	rs398124465
google	rs398124465
pharmgkb	rs398124465
gwascentral	rs398124465
openSNP	rs398124465
23andMe	rs398124465
SNPshot	rs398124465
SNPdbe	rs398124465
MSV3d	rs398124465
GWAS Ctlg	rs398124465

Max Magnitude

0

ClinVar
Risk	rs398124465(-;-)
Alt	rs398124465(-;-)
Reference	Rs398124465(AG;AG)
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.36985761_36985762delAG
CLNSRC	HGMD
CLNACC	RCV000082485.3, RCV000146547.2,